689 (67.7%)
|
epiphyseal dysplasia, Baumann type
|
Aplasia of metacarpal bones
Carpal bone aplasia
Joint laxity
Autosomal recessive inheritance
OMIM:610797
Find images (Google)
Monarch
GTR:C1835830
|
689 (67.7%)
|
multiple epiphyseal dysplasia type 1
|
Joint stiffness
Short metacarpal
Autosomal dominant inheritance
Heterogeneous
Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.
OMIM:132400
Find images (Google)
Monarch
KEGG:H00476
Gene Reviews
GTR:C1838280
GTR:C4275061
|
703 (67.6%)
|
mucopolysaccharidosis type 7
|
Gingival overgrowth
Hypoplasia of the odontoid process
Proximal tapering of metacarpals
Thick eyebrow
Autosomal recessive inheritance
Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.
OMIM:253220
Find images (Google)
Monarch
KEGG:H00132
GTR:C0085132
|
704 (67.6%)
|
dyssegmental dysplasia-glaucoma syndrome
|
Cleft palate
Micromelia
Short long bone
Autosomal recessive inheritance
This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.
OMIM:601561
Find images (Google)
Monarch
GTR:C1832111
|
705 (67.6%)
|
mesomelic dwarfism-cleft palate-camptodactyly syndrome
|
Camptodactyly of finger
Cleft palate
Mesomelic leg shortening
Micrognathia
Autosomal recessive inheritance
Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.
OMIM:249710
Find images (Google)
Monarch
|
706 (67.6%)
|
microphthalmia, syndromic 1
|
Cleft upper lip
Oral cleft
Radial deviation of finger
Short clavicles
X-linked inheritance
OMIM:309800
Find images (Google)
Monarch
KEGG:H02170
Gene Reviews
|
707 (67.6%)
|
microcephalic osteodysplastic primordial dwarfism, type 3
|
Clinodactyly of the 5th finger
Hypoplasia of the capital femoral epiphysis
Micrognathia
Thick upper lip vermilion
Autosomal recessive inheritance
OMIM:210730
Find images (Google)
Monarch
GTR:C1859439
|
708 (67.6%)
|
distal arthrogryposis type 5D
|
Adducted thumb
Cleft palate
Highly arched eyebrow
Micrognathia
Autosomal recessive inheritance
Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.
OMIM:615065
Find images (Google)
Monarch
GTR:C3554415
|
709 (67.5%)
|
short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
|
Cleft palate
Micrognathia
Rhizomelia
Autosomal dominant inheritance
OMIM:617164
Find images (Google)
Monarch
GTR:C4310686
|
710 (67.5%)
|
acromelic frontonasal dysostosis
|
Brachycephaly
Cleft upper lip
Downslanted palpebral fissures
Syndactyly
Autosomal dominant inheritance
Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.
OMIM:603671
Find images (Google)
Monarch
KEGG:H02210
GTR:C1863616
|
711 (67.4%)
|
lethal polymalformative syndrome, Boissel type
|
Brachydactyly
Cleft palate
Macroglossia
Retrognathia
Autosomal recessive inheritance
OMIM:612938
Find images (Google)
Monarch
KEGG:H00926
|
712 (67.4%)
|
Jawad syndrome
|
Prominent nose
Retrognathia
Short middle phalanx of the 5th finger
Autosomal recessive inheritance
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.
OMIM:251255
Find images (Google)
Monarch
GTR:C0796063
|
712 (67.4%)
|
sclerosteosis 2
|
Mandibular prognathia
Short finger
Autosomal dominant inheritance
Autosomal recessive inheritance
Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.
OMIM:614305
Find images (Google)
Monarch
GTR:C3280402
|
714 (67.4%)
|
craniosynostosis-anal anomalies-porokeratosis syndrome
|
Cleft palate
Short ribs
Sparse eyelashes
Autosomal recessive inheritance
Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).
OMIM:603116
Find images (Google)
Monarch
|
714 (67.4%)
|
LEOPARD syndrome 1
|
Cleft palate
Epicanthus
Missing ribs
Autosomal dominant inheritance
Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.
OMIM:151100
Find images (Google)
Monarch
KEGG:H01984
Gene Reviews
GTR:C0175704
GTR:CN074218
|
716 (67.4%)
|
Greenberg dysplasia
|
Abnormality of the orbital region
Micrognathia
Micromelia
Misalignment of teeth
Postaxial hand polydactyly
Autosomal recessive inheritance
A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.
OMIM:215140
Find images (Google)
Monarch
KEGG:H00447
GTR:C2931048
GTR:CN199524
|
717 (67.4%)
|
osteogenesis imperfecta type 10
|
Dentinogenesis imperfecta
Micrognathia
Micromelia
Shallow orbits
Autosomal recessive inheritance
Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.
OMIM:613848
Find images (Google)
Monarch
GTR:C3151211
|
718 (67.4%)
|
hereditary spastic paraplegia 16
|
Facial hypotonia
Hypoplasia of the maxilla
Short distal phalanx of finger
X-linked recessive inheritance
A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.
OMIM:300266
Find images (Google)
Monarch
GTR:C1846046
|
719 (67.4%)
|
mucolipidosis type III
|
Carpal bone hypoplasia
Coarse facial features
Short long bone
Short ribs
Autosomal recessive inheritance
Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.
OMIM:252600
Find images (Google)
Monarch
KEGG:H02130
Gene Reviews
GTR:CN237499
|
719 (67.4%)
|
Dyggve-Melchior-Clausen disease
|
Carpal bone hypoplasia
Coarse facial features
Hypoplastic scapulae
Short metatarsal
Autosomal recessive inheritance
Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.
OMIM:223800
Find images (Google)
Monarch
KEGG:H00757
GTR:C0265286
|
721 (67.3%)
|
LEOPARD syndrome 2
|
Cubitus valgus
Epicanthus
Mandibular prognathia
Thick lower lip vermilion
Autosomal dominant inheritance
Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.
OMIM:611554
Find images (Google)
Monarch
Gene Reviews
GTR:C1969056
|
721 (67.3%)
|
Noonan syndrome 5
|
Cubitus valgus
Epicanthus
Mandibular prognathia
Thick vermilion border
Autosomal dominant inheritance
Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene.
OMIM:611553
Find images (Google)
Monarch
Gene Reviews
GTR:C1969057
|
723 (67.3%)
|
Adams-Oliver syndrome 1
|
Brachydactyly
Cleft palate
Cleft upper lip
Microcephaly
Autosomal dominant inheritance
Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.
OMIM:100300
Find images (Google)
Monarch
KEGG:H01413
Gene Reviews
GTR:CN028867
|
724 (67.3%)
|
autosomal recessive cutis laxa type 2A
|
Congenital hip dislocation
Downslanted palpebral fissures
Long philtrum
Malar flattening
Autosomal recessive inheritance
An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
OMIM:219200
Find images (Google)
Monarch
Gene Reviews
GTR:CN204606
|
725 (67.3%)
|
lethal congenital contracture syndrome 9
|
Adducted thumb
Micrognathia
Thin upper lip vermilion
Autosomal recessive inheritance
Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.
OMIM:616503
Find images (Google)
Monarch
GTR:C4225303
|
725 (67.3%)
|
congenital contractures of the limbs and face, hypotonia, and developmental delay
|
Adducted thumb
Long philtrum
Micrognathia
Pursed lips
Autosomal dominant inheritance
OMIM:616266
Find images (Google)
Monarch
GTR:C4225398
|
725 (67.3%)
|
nephrotic syndrome, type 11
|
Arachnodactyly
Cleft palate
Micrognathia
Smooth philtrum
Autosomal recessive inheritance
Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.
OMIM:616730
Find images (Google)
Monarch
GTR:C4225228
|
725 (67.3%)
|
polymicrogyria with or without vascular-type ehlers-danlos syndrome
|
Micrognathia
Slender finger
Smooth philtrum
Thin vermilion border
Autosomal recessive inheritance
OMIM:618343
Find images (Google)
|
725 (67.3%)
|
Galloway-Mowat syndrome 7
|
Arachnodactyly
Cleft palate
Micrognathia
Smooth philtrum
Autosomal recessive inheritance
OMIM:618348
Find images (Google)
|
725 (67.3%)
|
cerebellar atrophy, visual impairment, and psychomotor retardation;
|
Micrognathia
Prominent fingertip pads
Short upper lip
Autosomal recessive inheritance
OMIM:616875
Find images (Google)
Monarch
KEGG:H02274
GTR:C4225172
|
725 (67.3%)
|
Mullegama-Klein-Martinez syndrome
|
Cleft palate
Clinodactyly of the 5th finger
Micrognathia
Thin upper lip vermilion
X-linked inheritance
OMIM:301022
Find images (Google)
|
725 (67.3%)
|
recombinant 8 syndrome
|
Abnormality of the dentition
Clinodactyly of the 5th finger
Micrognathia
Thin upper lip vermilion
Autosomal dominant inheritance
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
OMIM:179613
Find images (Google)
Monarch
GTR:C0795822
|
725 (67.3%)
|
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
|
High palate
Long fingers
Micrognathia
Smooth philtrum
Autosomal recessive inheritance
OMIM:617527
Find images (Google)
Monarch
GTR:C4479631
|
734 (67.2%)
|
syndromic X-linked intellectual disability Siderius type
|
Cleft lip
Large hands
Thoracic kyphosis
Upslanted palpebral fissure
X-linked recessive inheritance
OMIM:300263
Find images (Google)
Monarch
GTR:C1846055
|
735 (67.2%)
|
short-rib thoracic dysplasia 15 with polydactyly
|
Accessory oral frenulum
Brachydactyly
Epicanthus
Short ribs
Autosomal recessive inheritance
OMIM:617088
Find images (Google)
Monarch
GTR:C4310724
|
736 (67.2%)
|
Tukel syndrome
|
Carpal bone aplasia
Congenital fibrosis of extraocular muscles
Postaxial oligodactyly
Autosomal recessive inheritance
OMIM:609428
Find images (Google)
Monarch
Gene Reviews
GTR:C1836217
|
737 (67.2%)
|
atypical glycine encephalopathy
|
Anteverted nares
Hand clenching
Long eyelashes
Retrognathia
Autosomal recessive inheritance
Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.
OMIM:617301
Find images (Google)
Monarch
Gene Reviews
GTR:C4310943
|
738 (67.2%)
|
brachydactyly type E2
|
Oligodontia
Short metacarpal
Short metatarsal
Autosomal dominant inheritance
Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.
OMIM:613382
Find images (Google)
Monarch
GTR:C3150644
|
738 (67.2%)
|
pseudopseudohypoparathyroidism
|
Delayed eruption of teeth
Full cheeks
Short metacarpal
Short metatarsal
Autosomal dominant inheritance
Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).
OMIM:612463
Find images (Google)
Monarch
Gene Reviews
GTR:C0033835
|
738 (67.2%)
|
pseudohypoparathyroidism type 1C
|
Delayed eruption of teeth
Full cheeks
Short metacarpal
Short metatarsal
Autosomal dominant inheritance
Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).
OMIM:612462
Find images (Google)
Monarch
Gene Reviews
GTR:C2932716
|
738 (67.2%)
|
metaphyseal chondrodysplasia, Kaitila type
|
Narrow palate
Short metacarpal
Short metatarsal
Short toe
Autosomal recessive inheritance
Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.
OMIM:250230
Find images (Google)
Monarch
GTR:C1855217
|
742 (67.2%)
|
Sifrim-Hitz-Weiss syndrome
|
Coarse facial features
Epicanthus
Short clavicles
Short femoral neck
Autosomal dominant inheritance
OMIM:617159
Find images (Google)
Monarch
GTR:C4310688
|
743 (67.1%)
|
holoprosencephaly-craniosynostosis syndrome
|
Coronal craniosynostosis
Hypoplastic vertebral bodies
Short distal phalanx of finger
Autosomal recessive inheritance
Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.
OMIM:601370
Find images (Google)
Monarch
GTR:C1832424
|
744 (67.1%)
|
Gabriele de Vries syndrome
|
Downslanted palpebral fissures
Long fingers
Malar flattening
Thick lower lip vermilion
Autosomal dominant inheritance
OMIM:617557
Find images (Google)
Monarch
Gene Reviews
GTR:C4479652
|
745 (67.0%)
|
short-rib thoracic dysplasia 14 with polydactyly
|
Cleft palate
Micromelia
Short ribs
Autosomal recessive inheritance
An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.
OMIM:616546
Find images (Google)
Monarch
GTR:C4225286
|
746 (67.0%)
|
genito-palato-cardiac syndrome
|
Cleft palate
Cleft upper lip
Micrognathia
Autosomal recessive inheritance
Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.
OMIM:231060
Find images (Google)
Monarch
GTR:C1856466
|
746 (67.0%)
|
Mayer-Rokitansky-Küster-Hauser syndrome type 2
|
Cleft palate
Cleft upper lip
Micrognathia
Sporadic
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.
OMIM:601076
Find images (Google)
Monarch
|
746 (67.0%)
|
Vici syndrome
|
Cleft palate
Cleft upper lip
Micrognathia
Autosomal recessive inheritance
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.
OMIM:242840
Find images (Google)
Monarch
KEGG:H02133
GTR:C1855772
|
749 (67.0%)
|
Eiken syndrome
|
Fibular hypoplasia
Skeletal dysplasia
Autosomal recessive inheritance
Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.
OMIM:600002
Find images (Google)
Monarch
KEGG:H00495
GTR:C1838779
|
750 (66.9%)
|
psychomotor retardation, epilepsy, and craniofacial dysmorphism
|
Broad jaw
Broad thumb
Short palm
Wide mouth
Autosomal recessive inheritance
OMIM:614501
Find images (Google)
Monarch
GTR:C3281055
|
751 (66.9%)
|
Koolen de Vries syndrome
|
Arachnodactyly
Cleft upper lip
Epicanthus
Microcephaly
Autosomal dominant inheritance
Contiguous gene syndrome
Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.
OMIM:610443
Find images (Google)
Monarch
KEGG:H02121
Gene Reviews
GTR:C1864871
GTR:CN776874
|
752 (66.9%)
|
XY type gonadal dysgenesis-associated anomalies syndrome
|
Acromelia
Cleft upper lip
Oral cleft
Autosomal recessive inheritance
Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.
OMIM:233430
Find images (Google)
Monarch
GTR:C1856272
|
753 (66.8%)
|
thumb deformity (disease)
|
Abnormality of the cardiovascular system
Aplasia/Hypoplasia of the thumb
OMIM:188100
Find images (Google)
Monarch
|
753 (66.8%)
|
acrorenal syndrome
|
Hand oligodactyly
Autosomal dominant inheritance
Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.
OMIM:102520
Find images (Google)
Monarch
GTR:C3495490
GTR:CN206860
|
753 (66.8%)
|
XK aprosencephaly
|
Hand oligodactyly
Autosomal recessive inheritance
XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.
OMIM:207770
Find images (Google)
Monarch
GTR:C0795952
|
753 (66.8%)
|
tetramelic monodactyly
|
Hand monodactyly
Split hand
Autosomal dominant inheritance
Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.
OMIM:187510
Find images (Google)
Monarch
GTR:C1861233
|
753 (66.8%)
|
heart-hand syndrome, Slovenian type
|
Aplasia of the middle phalanx of the hand
Brachydactyly
Autosomal dominant inheritance
Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.
OMIM:610140
Find images (Google)
Monarch
GTR:C1857829
|
753 (66.8%)
|
split hand-foot malformation 6
|
Hand oligodactyly
Split hand
Autosomal recessive inheritance
Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.
OMIM:225300
Find images (Google)
Monarch
GTR:C2749665
|
753 (66.8%)
|
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
|
Abnormality of the genitourinary system
Aphalangy of hands and feet
Autosomal recessive inheritance
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.
OMIM:207620
Find images (Google)
Monarch
GTR:C1859754
|
753 (66.8%)
|
Karsch-Neugebauer syndrome
|
Hand monodactyly
Strabismus
Autosomal dominant inheritance
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.
OMIM:183800
Find images (Google)
Monarch
GTR:C1866740
|
753 (66.8%)
|
mesoaxial synostotic syndactyly with phalangeal reduction
|
Aplasia/Hypoplasia of the hallux
Aplasia/Hypoplasia of the thumb
Single transverse palmar crease
Autosomal recessive inheritance
Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.
OMIM:609432
Find images (Google)
Monarch
GTR:C1836206
|
753 (66.8%)
|
angioosteohypertrophic syndrome
|
Glaucoma
Hand oligodactyly
Sporadic
Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.
OMIM:149000
Find images (Google)
Monarch
KEGG:H01788
GTR:C0022739
GTR:CN201567
|
763 (66.7%)
|
metaphyseal chondrodysplasia, Jansen type
|
Choanal stenosis
Clinodactyly of the 5th finger
Micrognathia
Misalignment of teeth
Short long bone
Autosomal dominant inheritance
Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.
OMIM:156400
Find images (Google)
Monarch
GTR:C0265295
|
764 (66.7%)
|
vitamin K-dependent clotting factors, combined deficiency of, type 1
|
Epistaxis
Short distal phalanx of finger
Autosomal recessive inheritance
Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.
OMIM:277450
Find images (Google)
Monarch
KEGG:H00995
GTR:C1848534
|
764 (66.7%)
|
skeletal dysplasia-intellectual disability syndrome
|
Short middle phalanx of finger
Wide nasal bridge
X-linked inheritance
Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.
OMIM:309620
Find images (Google)
Monarch
GTR:C1839729
|
764 (66.7%)
|
X-linked chondrodysplasia punctata 1
|
Short distal phalanx of finger
Short nasal septum
X-linked recessive inheritance
Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.
OMIM:302950
Find images (Google)
Monarch
KEGG:H01194
Gene Reviews
GTR:C1844853
GTR:C3669395
|
764 (66.7%)
|
osteochondritis dissecans (disease)
|
Frontal bossing
Short thumb
Autosomal dominant inheritance
Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.
OMIM:165800
Find images (Google)
Monarch
KEGG:H00448
GTR:C0029421
|
764 (66.7%)
|
spondylometaphyseal dysplasia, Golden type
|
Coarse facial features
Short finger
X-linked inheritance
X-linked dominant inheritance
Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.
OMIM:313420
Find images (Google)
Monarch
GTR:C0796172
|
769 (66.6%)
|
short-rib thoracic dysplasia 8 with or without polydactyly
|
Brachydactyly
Depressed nasal bridge
Short long bone
Short ribs
Autosomal recessive inheritance
An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.
OMIM:615503
Find images (Google)
Monarch
GTR:C3809691
|
770 (66.5%)
|
Joubert syndrome 10
|
Deep philtrum
Epicanthus
Macrocephaly
Postaxial polydactyly
X-linked recessive inheritance
Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.
OMIM:300804
Find images (Google)
Monarch
Gene Reviews
GTR:C2749019
|
770 (66.5%)
|
Alazami-Yuan syndrome
|
Broad hallux
Long eyelashes
Microcephaly
Thin upper lip vermilion
Autosomal recessive inheritance
OMIM:617126
Find images (Google)
Monarch
GTR:C4310702
|
770 (66.5%)
|
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
|
Clinodactyly
Epicanthus
Microcephaly
Thin upper lip vermilion
Autosomal dominant inheritance
OMIM:617360
Find images (Google)
Monarch
Gene Reviews
GTR:C4479246
|
770 (66.5%)
|
megalencephaly-capillary malformation-polymicrogyria syndrome
|
Epicanthus
Progressive macrocephaly
Smooth philtrum
Syndactyly
Somatic mutation
Sporadic
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.
OMIM:602501
Find images (Google)
Monarch
KEGG:H02153
Gene Reviews
GTR:C1865285
|
770 (66.5%)
|
sialuria
|
Epicanthus
Frontal bossing
Long hallux
Thin upper lip vermilion
Autosomal dominant inheritance
Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.
OMIM:269921
Find images (Google)
Monarch
|
775 (66.5%)
|
developmental malformations-deafness-dystonia syndrome
|
Cleft palate
Cleft upper lip
Hypoplastic scapulae
Autosomal dominant inheritance
Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.
OMIM:607371
Find images (Google)
Monarch
KEGG:H01255
Gene Reviews
GTR:C1846331
|
776 (66.5%)
|
connective tissue disorder due to lysyl hydroxylase-3 deficiency
|
Hypoplasia of the capital femoral epiphysis
Long philtrum
Malar flattening
Shallow orbits
Thenar muscle atrophy
Autosomal recessive inheritance
Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.
OMIM:612394
Find images (Google)
Monarch
KEGG:H01192
GTR:C2676285
|
777 (66.4%)
|
acrodysostosis 2 with or without hormone resistance
|
Malar flattening
Mandibular prognathia
Short metacarpal
Short metatarsal
Autosomal dominant inheritance
Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.
OMIM:614613
Find images (Google)
Monarch
GTR:C3553250
|
778 (66.3%)
|
Al-Raqad syndrome
|
Brachydactyly
Microcephaly
Narrow mouth
Thin upper lip vermilion
Autosomal recessive inheritance
OMIM:616459
Find images (Google)
Monarch
KEGG:H01878
GTR:C4085595
|
779 (66.3%)
|
severe combined immunodeficiency due to DNA-PKcs deficiency
|
Microcephaly
Overlapping fingers
Thin upper lip vermilion
Autosomal recessive inheritance
Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.
OMIM:615966
Find images (Google)
Monarch
GTR:C4014833
|
780 (66.3%)
|
velocardiofacial syndrome
|
Abnormality of the hand
Blepharophimosis
Retrognathia
Submucous cleft hard palate
Autosomal dominant inheritance
A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.
OMIM:192430
Find images (Google)
Monarch
KEGG:H01004
Gene Reviews
GTR:CN205308
|
781 (66.3%)
|
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
|
Brachydactyly
Cleft palate
Micrognathia
Autosomal dominant inheritance
OMIM:618265
Find images (Google)
|
781 (66.3%)
|
Loeys-Dietz syndrome 2
|
Brachydactyly
Cleft palate
Micrognathia
Autosomal dominant inheritance
Heterogeneous
A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.
OMIM:610168
Find images (Google)
Monarch
Gene Reviews
|
783 (66.2%)
|
otofacioosseous-gonadal syndrome
|
Epicanthus
Malar flattening
Short hallux
Autosomal recessive inheritance
OMIM:601976
Find images (Google)
Monarch
GTR:C1865988
|
783 (66.2%)
|
chromosome 16p13.3 duplication syndrome
|
Malar flattening
Short toe
Upslanted palpebral fissure
Autosomal dominant inheritance
Sporadic
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems.
OMIM:613458
Find images (Google)
Monarch
GTR:C3150708
GTR:C4518796
|
785 (66.2%)
|
cleft palate-stapes fixation-oligodontia syndrome
|
Cleft soft palate
Short hallux
Autosomal recessive inheritance
Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.
OMIM:216300
Find images (Google)
Monarch
GTR:C1859081
|
786 (66.2%)
|
cortical blindness-intellectual disability-polydactyly syndrome
|
Long philtrum
Microretrognathia
Autosomal recessive inheritance
This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly.
OMIM:218010
Find images (Google)
Monarch
GTR:C1857568
|
786 (66.2%)
|
faciothoracogenital syndrome
|
Micrognathia
Thin upper lip vermilion
Autosomal recessive inheritance
OMIM:227320
Find images (Google)
Monarch
GTR:C2931184
|
786 (66.2%)
|
trismus-pseudocamptodactyly syndrome
|
Deep philtrum
Facial asymmetry
Micrognathia
Autosomal dominant inheritance
OMIM:158300
Find images (Google)
Monarch
KEGG:H00872
GTR:C0265226
|
786 (66.2%)
|
cataract - congenital heart disease - neural tube defect syndrome
|
Micrognathia
Short philtrum
Thick lower lip vermilion
Autosomal recessive inheritance
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.
OMIM:608227
Find images (Google)
Monarch
GTR:C1842363
|
786 (66.2%)
|
Keppen-Lubinsky syndrome
|
Micrognathia
Open mouth
Short philtrum
Autosomal dominant inheritance
OMIM:614098
Find images (Google)
Monarch
KEGG:H02236
GTR:C3279800
|
786 (66.2%)
|
faciocardiorenal syndrome
|
Cleft palate
Hypoplastic philtrum
Micrognathia
Autosomal recessive inheritance
Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.
OMIM:227280
Find images (Google)
Monarch
GTR:C0795936
|
786 (66.2%)
|
chromosome 1p35 deletion syndrome
|
Micrognathia
Narrow mouth
Thin upper lip vermilion
Autosomal dominant inheritance
OMIM:617930
Find images (Google)
Monarch
GTR:CN244562
|
786 (66.2%)
|
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
|
High palate
Micrognathia
Thin upper lip vermilion
Autosomal recessive inheritance
OMIM:616549
Find images (Google)
Monarch
GTR:C4225285
|
786 (66.2%)
|
congenital muscular dystrophy with intellectual disability and severe epilepsy
|
High palate
Micrognathia
Thin upper lip vermilion
Autosomal recessive inheritance
OMIM:615042
Find images (Google)
Monarch
Gene Reviews
GTR:C3554385
|
786 (66.2%)
|
Perlman syndrome
|
Micrognathia
Open mouth
Tented upper lip vermilion
Autosomal recessive inheritance
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.
OMIM:267000
Find images (Google)
Monarch
KEGG:H01412
Gene Reviews
GTR:C0796113
|
786 (66.2%)
|
X-linked lissencephaly with abnormal genitalia
|
High palate
Micrognathia
Thin upper lip vermilion
X-linked inheritance
X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit.
OMIM:300215
Find images (Google)
Monarch
|
786 (66.2%)
|
cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
|
Long philtrum
Malar flattening
Micrognathia
Autosomal recessive inheritance
A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13
OMIM:613177
Find images (Google)
Monarch
KEGG:H00904
Gene Reviews
GTR:C2750804
|
786 (66.2%)
|
pseudo-TORCH syndrome 1
|
High palate
Long philtrum
Microretrognathia
Autosomal recessive inheritance
OMIM:251290
Find images (Google)
Monarch
KEGG:H00840
GTR:C3489725
|
786 (66.2%)
|
hypotonia, infantile, with psychomotor retardation and characteristic facies 1
|
Micrognathia
Thin upper lip vermilion
Wide mouth
Autosomal recessive inheritance
Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.
OMIM:615419
Find images (Google)
Monarch
KEGG:H01922
GTR:C3809454
|
786 (66.2%)
|
DYRK1A-related intellectual disability syndrome
|
Micrognathia
Thick lower lip vermilion
Thin upper lip vermilion
Autosomal dominant inheritance
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.
OMIM:614104
Find images (Google)
Monarch
Gene Reviews
GTR:C3279839
|