1001 (62.4%)
|
Leprosy
|
Back pain
Cheilitis
Ectropion
Ulnar claw
A chronic infectious disease affecting primarily the skin and peripheral nervous system.
Orphanet:548
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GTR:C0023343
|
1002 (62.4%)
|
Glossopalatine ankylosis
|
Aglossia
Micrognathia
Peromelia
Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.
Orphanet:141163
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|
1003 (62.4%)
|
Spondyloenchondrodysplasia
|
Abnormality of the dentition
Micromelia
Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.
Orphanet:1855
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GTR:C0432222
|
1003 (62.4%)
|
Localized scleroderma
|
Gingival recession
Hemiatrophy
Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips.
Orphanet:90289
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GTR:C0036420
|
1003 (62.4%)
|
Poliomyelitis
|
Facial asymmetry
Hemiatrophy
Parotitis
Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses.
Orphanet:2912
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GTR:C0032371
|
1006 (62.3%)
|
Mesomelic dysplasia, Kantaputra type
|
Abnormality of the ribs
Clinodactyly of the 5th finger
Mesomelia
Autosomal dominant inheritance
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.
Orphanet:1836
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GTR:C1835009
|
1007 (62.3%)
|
Omodysplasia
|
Rhizomelia
Skeletal dysplasia
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.
Orphanet:2733
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|
1007 (62.3%)
|
Osteocraniostenosis
|
Intrauterine growth retardation
Micromelia
Autosomal dominant inheritance
Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
Orphanet:2763
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KEGG:H02223
GTR:C1865639
|
1007 (62.3%)
|
Spondyloepiphyseal dysplasia, Kimberley type
|
Micromelia
Platyspondyly
Autosomal dominant inheritance
Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.
Orphanet:93283
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KEGG:H00765
GTR:C1842149
|
1007 (62.3%)
|
Coxoauricular syndrome
|
Hearing impairment
Micromelia
Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.
Orphanet:1508
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GTR:C1852513
|
1007 (62.3%)
|
Multiple epiphyseal dysplasia due to collagen 9 anomaly
|
Gait disturbance
Micromelia
Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.
Orphanet:166002
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|
1007 (62.3%)
|
Heart defects-limb shortening syndrome
|
Abnormality of the ribs
Mesomelic/rhizomelic limb shortening
Autosomal recessive inheritance
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs) and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.
Orphanet:1354
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GTR:C1859327
|
1007 (62.3%)
|
Becker nevus syndrome
|
Abnormality of the scrotum
Micromelia
A rare, syndromic, benign, epidemal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects, such as pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy.
Orphanet:64755
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GTR:C0263579
GTR:C1858042
|
1007 (62.3%)
|
Monomelic amyotrophy
|
Hemiatrophy
Muscle weakness
Sporadic
Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.
Orphanet:65684
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GTR:C1865384
|
1007 (62.3%)
|
Nevus of Ota
|
Glaucoma
Hemiatrophy
Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.
Orphanet:263425
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GTR:C0027961
|
1007 (62.3%)
|
Ollier disease
|
Blurred vision
Micromelia
Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.
Orphanet:296
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GTR:C0014084
GTR:C0013366
|
1007 (62.3%)
|
Mixed germ cell tumor
|
Hemiatrophy
Urinary retention
Orphanet:180234
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GTR:C0334524
|
1007 (62.3%)
|
Duchenne muscular dystrophy
|
Hemiatrophy
Urinary incontinence
X-linked recessive inheritance
Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
Orphanet:98896
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KEGG:H00562
KEGG:H01963
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GTR:C0013264
|
1019 (62.3%)
|
Acrocapitofemoral dysplasia
|
Macrocephaly
Micromelia
Short palm
Autosomal recessive inheritance
A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
Orphanet:63446
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KEGG:H00675
GTR:C1843096
|
1020 (62.2%)
|
Familial scaphocephaly syndrome, McGillivray type
|
Broad hallux phalanx
High palate
Mandibular prognathia
Toe syndactyly
Upslanted palpebral fissure
Autosomal dominant inheritance
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.
Orphanet:168624
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GTR:C1865070
|
1021 (62.2%)
|
Intellectual disability-myopathy-short stature-endocrine defect syndrome
|
Abnormal palate morphology
Clinodactyly of the 5th finger
Craniofacial hyperostosis
Downslanted palpebral fissures
Autosomal recessive inheritance
Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.
Orphanet:3068
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GTR:C1854663
|
1021 (62.2%)
|
Allan-Herndon-Dudley syndrome
|
Bilateral single transverse palmar creases
Camptodactyly of finger
Hypoplasia of the zygomatic bone
Open mouth
Upslanted palpebral fissure
X-linked inheritance
X-linked recessive inheritance
X-linked dominant inheritance
An X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.
Orphanet:59
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KEGG:H00650
Gene Reviews
GTR:C0795889
|
1021 (62.2%)
|
Classical Ehlers-Danlos syndrome
|
Abnormality of the tongue
Arachnodactyly
Epicanthus
Malar prominence
Autosomal dominant inheritance
Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.
Orphanet:287
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KEGG:H00802
Gene Reviews
GTR:C0220679
|
1024 (62.2%)
|
Multiple myeloma
|
Ectropion
Glossitis
Mandibular pain
Rotator cuff tear
Autosomal recessive inheritance
Somatic mutation
Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).
Orphanet:29073
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GTR:C0026764
|
1025 (62.1%)
|
Spondyloepimetaphyseal dysplasia with multiple dislocations
|
Malar flattening
Micromelia
Slender metacarpals
Autosomal dominant inheritance
Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.
Orphanet:93360
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GTR:C1863732
|
1026 (62.1%)
|
47,XYY syndrome
|
Finger clinodactyly
Malar flattening
Radioulnar synostosis
47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.
Orphanet:8
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GTR:C3266843
GTR:C0043379
|
1027 (62.1%)
|
Deafness-small bowel diverticulosis-neuropathy syndrome
|
Abnormality of the pharynx
Short palm
Autosomal recessive inheritance
Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).
Orphanet:3217
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GTR:C1857338
|
1027 (62.1%)
|
Marinesco-Sjögren syndrome
|
Microcephaly
Short palm
Autosomal recessive inheritance
Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.
Orphanet:559
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KEGG:H01284
Gene Reviews
GTR:C0024814
|
1027 (62.1%)
|
Proximal renal tubular acidosis
|
Microcephaly
Small hand
Autosomal dominant inheritance
Autosomal recessive inheritance
Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.
Orphanet:47159
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GTR:C0268435
|
1030 (62.0%)
|
Paraplegia-intellectual disability-hyperkeratosis syndrome
|
Brachydactyly
Cone-shaped epiphysis
Micrognathia
Sloping forehead
X-linked inheritance
X-linked recessive inheritance
A rare syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis.
Orphanet:2824
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GTR:C2745996
|
1031 (62.0%)
|
3q26 microduplication syndrome
|
Full cheeks
Micrognathia
Thick eyebrow
3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.
Orphanet:96095
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|
1032 (61.9%)
|
Hydranencephaly
|
Median cleft lip
Microcephaly
Syndactyly
A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical.
Orphanet:2177
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GTR:C0020225
|
1033 (61.9%)
|
Joubert syndrome with renal defect
|
Cleft palate
Encephalocele
Hand polydactyly
Highly arched eyebrow
Autosomal recessive inheritance
Heterogeneous
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.
Orphanet:220497
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|
1033 (61.9%)
|
Joubert syndrome with ocular defect
|
Cleft palate
Encephalocele
Hand polydactyly
Highly arched eyebrow
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.
Orphanet:220493
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|
1033 (61.9%)
|
Joubert syndrome with hepatic defect
|
Highly arched eyebrow
Macrocephaly
Oral cleft
Postaxial hand polydactyly
Autosomal recessive inheritance
Heterogeneous
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
Orphanet:1454
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KEGG:H01001
GTR:C1857662
|
1036 (61.9%)
|
Fuhrmann syndrome
|
Brachydactyly
Phocomelia
Autosomal recessive inheritance
Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.
Orphanet:2854
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KEGG:H00846
GTR:C1856728
|
1037 (61.9%)
|
Hypertrichosis-acromegaloid facial appearance syndrome
|
Abnormality of the hand
Blepharophimosis
Everted lower lip vermilion
Gingival overgrowth
Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).
Orphanet:966
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|
1037 (61.9%)
|
Bathing suit ichthyosis
|
Eclabion
Ectropion
Palmoplantar hyperkeratosis
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.
Orphanet:100976
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|
1039 (61.8%)
|
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
|
Frontal bossing
Micrognathia
Orbital craniosynostosis
Autosomal dominant inheritance
Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.
Orphanet:1538
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|
1040 (61.7%)
|
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
|
Brachydactyly
Coarse facial features
Short toe
Autosomal recessive inheritance
Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.
Orphanet:3085
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GTR:C1849401
|
1041 (61.7%)
|
8p23.1 duplication syndrome
|
Highly arched eyebrow
Long philtrum
Toe syndactyly
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).
Orphanet:251076
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|
1042 (61.7%)
|
Prolidase deficiency
|
Arachnodactyly
Carious teeth
Genu valgum
Low anterior hairline
Micrognathia
Autosomal recessive inheritance
Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
Orphanet:742
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KEGG:H01119
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GTR:C1534653
GTR:C0268532
|
1043 (61.7%)
|
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
|
Blepharophimosis
Mandibular prognathia
Thick lower lip vermilion
Autosomal recessive inheritance
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.
Orphanet:2057
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GTR:C1859432
|
1043 (61.7%)
|
Xq25 microduplication syndrome
|
Epicanthus
Malar flattening
Mandibular prognathia
Thick vermilion border
Orphanet:521258
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|
1045 (61.7%)
|
Hypertelorism-microtia-facial clefting syndrome
|
Bifid nasal tip
Median cleft lip and palate
Microcephaly
Thenar muscle atrophy
Autosomal recessive inheritance
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.
Orphanet:2213
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GTR:C0220742
|
1046 (61.6%)
|
Coats disease
|
Phocomelia
Retinal capillary hemangioma
Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.
Orphanet:190
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GTR:C0154832
|
1047 (61.6%)
|
Maternal uniparental disomy of chromosome 1
|
Delayed closure of the anterior fontanelle
Epiphyseal stippling
Single transverse palmar crease
Smooth philtrum
Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
Orphanet:251009
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|
1048 (61.6%)
|
DEND syndrome
|
Clinodactyly of the 4th finger
Long philtrum
Prominent metopic ridge
DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.
Orphanet:79134
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GTR:C1853564
|
1048 (61.6%)
|
Peripheral pulmonary stenosis
|
Brachycephaly
Clinodactyly of the thumb
Long philtrum
Oval face
Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms.
Orphanet:99084
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|
1048 (61.6%)
|
ALG13-CDG
|
Adducted thumb
Long philtrum
Microcephaly
Short chin
X-linked recessive inheritance
X-linked dominant inheritance
A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).
Orphanet:324422
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|
1048 (61.6%)
|
Autosomal recessive spondylocostal dysostosis
|
Camptodactyly of finger
Cleft palate
Increased arm span
Long philtrum
Microcephaly
A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.
Orphanet:2311
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GTR:C0265343
GTR:C2931020
|
1052 (61.6%)
|
Proteus-like syndrome
|
Downslanted palpebral fissures
Genu recurvatum
Mandibular prognathia
Open bite
Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.
Orphanet:2969
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GTR:C1866398
|
1053 (61.6%)
|
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
|
Downslanted palpebral fissures
Genu varum
Mandibular prognathia
Narrow mouth
Autosomal dominant inheritance
A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.
Orphanet:1110
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GTR:C1862682
|
1054 (61.5%)
|
Spondylometaphyseal dysplasia, Kozlowski type
|
Brachydactyly
Genu valgum
High forehead
Hypoplasia of the odontoid process
Autosomal dominant inheritance
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.
Orphanet:93314
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KEGG:H02185
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GTR:C0265280
|
1055 (61.5%)
|
Pili torti-onychodysplasia syndrome
|
Absent eyelashes
Cleft lip
Cleft palate
Cutaneous syndactyly
A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.
Orphanet:2890
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GTR:C2931483
|
1056 (61.4%)
|
Camptodactyly-joint contractures-facial skeletal defects syndrome
|
Camptodactyly of finger
Micrognathia
Narrow mouth
Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).
Orphanet:1323
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GTR:C2931051
|
1056 (61.4%)
|
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
|
Camptodactyly of finger
Micrognathia
Narrow mouth
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.
Orphanet:1495
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|
1056 (61.4%)
|
Congenital muscular dystrophy, Ullrich type
|
Abnormal palate morphology
Adducted thumb
Micrognathia
Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.
Orphanet:75840
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GTR:C0410179
|
1056 (61.4%)
|
Galloway-Mowat syndrome
|
Abnormality of the dentition
Adducted thumb
Micrognathia
A rare syndrome characterized by the association of nephrotic syndrome and central nervous system anomalies.
Orphanet:2065
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GTR:C0795949
|
1056 (61.4%)
|
Growth delay due to insulin-like growth factor type 1 deficiency
|
Abnormality of the mouth
Clinodactyly of the 5th finger
Delayed eruption of teeth
Micrognathia
Autosomal recessive inheritance
Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.
Orphanet:73272
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KEGG:H02040
GTR:C1837475
|
1056 (61.4%)
|
Rhombencephalosynapsis
|
Microretrognathia
Narrow mouth
Short phalanx of finger
Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.
Orphanet:59315
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GTR:C1866130
|
1062 (61.3%)
|
Goldberg-Shprintzen megacolon syndrome
|
Cleft palate
Finger syndactyly
Microcephaly
Sparse and thin eyebrow
Autosomal recessive inheritance
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).
Orphanet:66629
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KEGG:H00936
GTR:C1836123
|
1063 (61.2%)
|
Macrocephaly-spastic paraplegia-dysmorphism syndrome
|
Macrocephaly
Mandibular prognathia
Thick eyebrow
Thin upper lip vermilion
Autosomal recessive inheritance
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.
Orphanet:2429
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GTR:C1838281
|
1064 (61.2%)
|
Fibrodysplasia ossificans progressiva
|
Aplasia/Hypoplasia of the phalanges of the hallux
Brachydactyly
Trismus
Autosomal dominant inheritance
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.
Orphanet:337
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KEGG:H00430
GTR:C0016037
|
1065 (61.1%)
|
Vascular Ehlers-Danlos syndrome
|
Congenital hip dislocation
Epicanthus
Pectus excavatum
Thin vermilion border
Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.
Orphanet:286
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GTR:C0268338
|
1066 (61.1%)
|
Christianson syndrome
|
Adducted thumb
Mandibular prognathia
Narrow face
Thick eyebrow
X-linked dominant inheritance
Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.
Orphanet:85278
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KEGG:H01914
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GTR:C1846130
GTR:C2678194
|
1067 (61.1%)
|
Neutral lipid storage disease with ichthyosis
|
Eclabion
Ectropion
Shoulder girdle muscle weakness
Autosomal recessive inheritance
Orphanet:98907
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KEGG:H00736
GTR:C0268238
|
1068 (61.1%)
|
McKusick-Kaufman syndrome
|
Abnormality of the metacarpal bones
Brachydactyly
Cleft palate
Autosomal recessive inheritance
McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.
Orphanet:2473
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KEGG:H02180
Gene Reviews
GTR:C0948368
|
1069 (61.0%)
|
Fibular dimelia-diplopodia syndrome
|
Abnormality of the face
Absent tibia
Fibular dimelia-diplopodia syndrome is a rare developmental anomaly.
Orphanet:1757
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|
1069 (61.0%)
|
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
|
Aplasia of the phalanges of the 3rd toe
Wide nasal bridge
Autosomal dominant inheritance
Autosomal recessive inheritance
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).
Orphanet:2229
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GTR:C0796031
GTR:C0796083
|
1071 (60.9%)
|
Isolated brachycephaly
|
Brachycephaly
Brachydactyly
Broad forehead
Metacarpal synostosis
Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.
Orphanet:35099
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GTR:C0221356
|
1072 (60.9%)
|
Pseudodiastrophic dysplasia
|
Malar flattening
Phalangeal dislocation
Rhizomelia
Autosomal recessive inheritance
Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.
Orphanet:85174
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GTR:C0432206
|
1072 (60.9%)
|
IMAGe syndrome
|
Arachnodactyly
Frontal bossing
Micromelia
Autosomal dominant inheritance
Autosomal recessive inheritance
IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.
Orphanet:85173
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GTR:C1846009
|
1072 (60.9%)
|
DYRK1A-related intellectual disability syndrome
|
Acromesomelia
Arachnodactyly
Narrow forehead
Autosomal dominant inheritance
Orphanet:464306
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Gene Reviews
|
1072 (60.9%)
|
Nephroblastoma
|
Coarse facial features
Hemiatrophy
Long fingers
A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.
Orphanet:654
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GTR:C0027708
|
1076 (60.9%)
|
Spondyloepimetaphyseal dysplasia, matrilin-3 type
|
Flat face
Limb undergrowth
Autosomal recessive inheritance
Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
Orphanet:156728
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KEGG:H00767
GTR:C1837481
|
1076 (60.9%)
|
Thoracic dysplasia-hydrocephalus syndrome
|
Depressed nasal ridge
Limb undergrowth
Autosomal recessive inheritance
Thoracic dysplasia-hydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.
Orphanet:1861
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GTR:C1848864
|
1076 (60.9%)
|
Hemiparkinsonism-hemiatrophy syndrome
|
Hemiatrophy
Hemifacial atrophy
Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated.
Orphanet:306669
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|
1076 (60.9%)
|
Recessive X-linked ichthyosis
|
Anosmia
Mesomelia
X-linked recessive inheritance
X-linked dominant inheritance
Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.
Orphanet:461
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KEGG:H00134
GTR:C2720163
GTR:C0079588
GTR:C2717836
|
1076 (60.9%)
|
Mucopolysaccharidosis type 3
|
Craniofacial hyperostosis
Hemiatrophy
Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.
Orphanet:581
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GTR:C0026706
GTR:C0086648
|
1076 (60.9%)
|
Superficial siderosis
|
Anosmia
Hemiatrophy
Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.
Orphanet:247245
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|
1076 (60.9%)
|
Hemimegalencephaly
|
Facial asymmetry
Hemiatrophy
Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.
Orphanet:99802
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GTR:C0431391
|
1076 (60.9%)
|
Glioblastoma
|
Facial paralysis
Hemiatrophy
Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).
Orphanet:360
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GTR:C0017636
GTR:C1621958
|
1084 (60.9%)
|
Orofaciodigital syndrome type 3
|
Abnormality of the dentition
Postaxial hand polydactyly
Short sternum
Autosomal recessive inheritance
Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.
Orphanet:2752
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GTR:C0406726
|
1085 (60.8%)
|
Bloom syndrome
|
Conjunctival telangiectasia
Hand polydactyly
Reduced number of teeth
Sinusitis
Autosomal recessive inheritance
Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.
Orphanet:125
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KEGG:H00296
KEGG:H01346
Gene Reviews
GTR:C0005859
|
1086 (60.8%)
|
Paternal uniparental disomy of chromosome 5
|
Posterior plagiocephaly
Rhizomelic arm shortening
Short lower limbs
Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Orphanet:96190
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|
1087 (60.7%)
|
Cowden syndrome
|
Brachydactyly
Conjunctival hamartoma
Macrocephaly
Macroglossia
Palmoplantar hyperkeratosis
Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.
Orphanet:201
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GTR:C0018553
|
1088 (60.7%)
|
Grant syndrome
|
Abnormal palate morphology
Bowing of the long bones
Micrognathia
Autosomal dominant inheritance
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.
Orphanet:2097
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GTR:C1841835
|
1088 (60.7%)
|
Typical nemaline myopathy
|
Genu valgum
High palate
Micrognathia
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
Orphanet:171436
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|
1088 (60.7%)
|
Menkes disease
|
Abnormal palate morphology
Abnormality of the metaphysis
Micrognathia
X-linked recessive inheritance
Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
Orphanet:565
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KEGG:H00209
Gene Reviews
GTR:C0022716
|
1091 (60.6%)
|
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
|
Bilateral single transverse palmar creases
Micrognathia
Reduced number of teeth
Autosomal dominant inheritance
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.
Orphanet:1964
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GTR:C1851412
|
1092 (60.6%)
|
Laurence-Moon syndrome
|
Brachycephaly
Brachydactyly
Epicanthus
Hand polydactyly
Autosomal recessive inheritance
A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.
Orphanet:2377
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KEGG:H01898
KEGG:H02137
Gene Reviews
GTR:C0023138
|
1092 (60.6%)
|
Peters anomaly
|
Bilateral camptodactyly
Brachydactyly
Epicanthus
Microcephaly
Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.
Orphanet:708
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|
1094 (60.6%)
|
MEHMO syndrome
|
Full cheeks
Microcephaly
Tapered finger
Thick vermilion border
X-linked recessive inheritance
Mitochondrial inheritance
MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.
Orphanet:85282
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KEGG:H02195
GTR:C1846278
GTR:C2931496
|
1094 (60.6%)
|
Maternal uniparental disomy of chromosome X
|
Camptodactyly of finger
Cubitus valgus
Microcephaly
Thin vermilion border
A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.
Orphanet:261519
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1096 (60.5%)
|
Camptodactyly syndrome, Guadalajara type 2
|
Microcephaly
Short 2nd toe
Autosomal recessive inheritance
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.
Orphanet:1326
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GTR:C2673861
GTR:C2931680
|
1096 (60.5%)
|
Symphalangism with multiple anomalies of hands and feet
|
Brachydactyly
Macrocephaly
Short distal phalanx of hallux
Autosomal dominant inheritance
Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.
Orphanet:3246
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GTR:C1861391
|
1098 (60.4%)
|
Apodia
|
Ankyloglossia
Micrognathia
Orphanet:294986
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GTR:C0265624
|
1098 (60.4%)
|
Ectrodactyly-spina bifida-cardiopathy syndrome
|
Abnormal palate morphology
Micrognathia
Orphanet:1894
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GTR:C2931393
|
1098 (60.4%)
|
Periodontal Ehlers-Danlos syndrome
|
Micrognathia
Severe periodontitis
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.
Orphanet:75392
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GTR:C0268347
|