1001
(62.4%)

Leprosy

Back pain Cheilitis Ectropion Ulnar claw

A chronic infectious disease affecting primarily the skin and peripheral nervous system.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

1007
(62.3%)

Mixed germ cell tumor

Hemiatrophy Urinary retention

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.

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.

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.

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.

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.

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.

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).

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.

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.

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).

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.

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.

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.

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.

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.

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.

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.

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).

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.

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).

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.

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.

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.

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).

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.

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.

1043
(61.7%)

Xq25 microduplication syndrome

Epicanthus Malar flattening Mandibular prognathia Thick vermilion border

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.

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.

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.

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.

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.

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).

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.

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.

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.

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.

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.

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).

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.

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.

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.

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.

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.

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).

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.

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.

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.

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.

1067
(61.1%)

Neutral lipid storage disease with ichthyosis

Eclabion Ectropion Shoulder girdle muscle weakness

Autosomal recessive inheritance

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.

1069
(61.0%)

Fibular dimelia-diplopodia syndrome

Abnormality of the face Absent tibia

Fibular dimelia-diplopodia syndrome is a rare developmental anomaly.

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).

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.

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.

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.

1072
(60.9%)

DYRK1A-related intellectual disability syndrome

Acromesomelia Arachnodactyly Narrow forehead

Autosomal dominant inheritance

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.

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.

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.

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.

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.

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.

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.

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.

1076
(60.9%)

Glioblastoma

Facial paralysis Hemiatrophy

Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

1098
(60.4%)

Apodia

Ankyloglossia Micrognathia

1098
(60.4%)

Ectrodactyly-spina bifida-cardiopathy syndrome

Abnormal palate morphology Micrognathia

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.