Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Polydactyly, Preaxial I |
|
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... |
OMIM:174400 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
Setting-Sun Phenomenon, Familial Benign |
|
Upper eyelid retraction |
OMIM:600598 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormality of finger |
OMIM:187390 |
Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
22q11 duplication syndrome |
|
Telecanthus |
DECIPHER:32 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:618219 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly |
OMIM:618498 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... |
OMIM:186350 |
Acropectoral Syndrome |
|
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb |
OMIM:605967 |
Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
Gastroschisis |
|
Gastroschisis, Abdominal wall defect |
OMIM:230750 |
Oculomotor-Levator Synkinesis |
|
Eyelid retraction, Ptosis, Abnormal eyelid morphology |
OMIM:151610 |
Banki Syndrome |
|
Radial deviation of finger, Clinodactyly |
OMIM:109300 |
Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of hallux, Proximal placeme... |
OMIM:218530 |
Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Micrognathia, Downslanted palpebral fissures, Epicanthus, Prominent nose, Cataract, Death in infa... |
OMIM:614882 |
Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Upper limb undergrowth, Thin skin, Omphalocele, Lower limb under... |
OMIM:613630 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Coxa vara, Scarring, Coxa valga, Inguinal hernia, Micrognathia, Avascular necrosis of the capital... |
ORPHA:1899 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Acromesomelic Dysplasia 2A |
|
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... |
OMIM:200700 |
Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Triphalangeal thumb, Preaxial foot polydactyly |
ORPHA:2091 |
Mental Retardation, X-Linked 91 |
|
Small hand, Short 5th finger, Short nose, Cubitus valgus, Short foot, Clinodactyly, Low posterior... |
OMIM:300577 |
Ptosis, Hereditary Congenital 1 |
|
Congenital ptosis |
OMIM:178300 |
Marcus Gunn Phenomenon |
|
Unilateral ptosis, Congenital ptosis |
OMIM:154600 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs |
OMIM:138790 |
Fibrosis Of Extraocular Muscles, Congenital, 5 |
|
Ptosis |
OMIM:616219 |
Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Singl... |
OMIM:617927 |
17Q21.31 Microduplication Syndrome |
|
Generalized hirsutism, Clinodactyly of the 5th finger, Thick eyebrow, Micrognathia, Epicanthus, S... |
ORPHA:217340 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Broad nasal tip, Long palpebral fissure, Thin eyebrow, Tapered finger, Thick nasal alae, High ant... |
OMIM:618147 |
Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
X-Linked Intellectual Disability, Stoll Type |
|
Clinodactyly of the 5th finger, Broad nasal tip, Hypoplastic nasal bridge, Widow's peak, Antevert... |
ORPHA:85326 |
Ectrodactyly-Polydactyly |
|
Postaxial hand polydactyly, Split hand, Split foot |
OMIM:225290 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair |
OMIM:203655 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Sparse body hair |
ORPHA:55654 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Thin eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes, Uncombable hair |
OMIM:146550 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Inguinal hernia, Club-shaped p... |
OMIM:184250 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Brachydactyly, Short thumb, Short 2nd toe |
OMIM:176305 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flat capital femoral epiphysis, Flexion contracture, Broad femoral neck, Flattened epiphysis, Tap... |
ORPHA:157965 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Thick eyebrow, Radial club hand, Wide nasal bridge, Brachydactyly, Abnormal fingernail morphology... |
ORPHA:1278 |
Membranous Cranial Ossification, Delayed |
|
Downslanted palpebral fissures, Depressed nasal bridge, Hypertelorism |
OMIM:155980 |
Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
Familial Intestinal Malrotation |
|
Anteverted nares, Depressed nasal bridge, Hypertelorism, Long palpebral fissure |
ORPHA:508410 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... |
ORPHA:2722 |
Alopecia Universalis |
|
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia |
ORPHA:701 |
Microcephaly 4, Primary, Autosomal Recessive |
|
Micrognathia, Hypertelorism, Thick eyebrow, Synophrys |
OMIM:604321 |
Pseudodiastrophic Dysplasia |
|
Talipes equinovarus, Phalangeal dislocation, Rhizomelia, Omphalocele, Elbow dislocation |
ORPHA:85174 |
Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... |
ORPHA:1263 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly |
OMIM:616890 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Deeply set eye, Short palpebral fissure, Sparse hair, Upslanted palpebral fissure, Alopecia, Broa... |
OMIM:617763 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
Alopecia Areata 2 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp |
OMIM:610753 |
Jawad Syndrome |
|
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... |
OMIM:251255 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Short nose, Hypopigmentation of hair, Depressed nasal ridge |
ORPHA:1355 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Aplasia/Hypoplasia of the skin, Macule, Dermal atrophy, Type E brachydactyly |
ORPHA:1962 |
Parc Syndrome |
|
Microretrognathia, Absent eyebrow, Absent eyelashes, Alopecia |
OMIM:600331 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Lacrimal duct atresia, Depressed nasal ridge, Depressed na... |
ORPHA:1529 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thick eyebrow, Sparse hair, Pear-shaped nose, Widow's peak, Interphalangeal joint contracture of ... |
OMIM:606242 |
Familial Articular Hypermobility Syndrome |
|
Abnormality of femur morphology, Inguinal hernia, Congenital hip dislocation, Shoulder dislocatio... |
ORPHA:2295 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose, Deviation of finger, Low posterior hairline |
ORPHA:1450 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... |
OMIM:609616 |
Craniodigital-Intellectual Disability Syndrome |
|
Generalized hirsutism, Thick eyebrow, Abnormal hair pattern, Narrow nasal bridge, Short nose, Lon... |
ORPHA:1514 |
14Q11.2 Microdeletion Syndrome |
|
Deeply set eye, Toe clinodactyly, Depressed nasal bridge, Micrognathia, Highly arched eyebrow, Ep... |
ORPHA:261120 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Atypical scarring o... |
ORPHA:294975 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Hidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... |
ORPHA:189 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Coxopodopatellar Syndrome |
|
Abnormal epiphysis morphology, Aplasia/Hypoplasia of the patella, Hip dysplasia, Abnormal pelvic ... |
ORPHA:1509 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... |
OMIM:618167 |
Acrogeria |
|
Lipoatrophy, Small hand, Micrognathia, Aplasia/Hypoplasia of the skin, Thin skin, Short foot, Fin... |
ORPHA:2500 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Sparse body hair, Onychogryposis of toenails, Dyst... |
OMIM:617294 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:609945 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of... |
OMIM:276820 |
X-Linked Intellectual Disability, Siderius Type |
|
Broad nasal tip, Large hands, Synophrys, Low posterior hairline, Preaxial hand polydactyly |
ORPHA:85287 |
Alopecia Areata 1 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits |
OMIM:104000 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies |
|
Overlapping toe, Clinodactyly of the 5th finger, Short palpebral fissure, Slender finger, Upslant... |
OMIM:617755 |
Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Hypoplastic toenails, Absent thumbnail, Absent fingernail, Pes planus, Triphalangeal thumb, Aplas... |
ORPHA:79499 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Tapered finger, Alopecia totalis, Abnormality of the nail, Short finger |
OMIM:302000 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Miller-Dieker Syndrome |
|
Epicanthus, Clinodactyly of the 5th finger, Sacral dimple, Omphalocele |
ORPHA:531 |
Dermoodontodysplasia |
|
Sparse scalp hair, Abnormal eyelid morphology, Toenail dysplasia, Sparse body hair, Fingernail dy... |
ORPHA:1660 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Genu recurvatum, Inguinal hernia, Pes planus, Narrow palpebral fissure, Hip dislocation, Decrease... |
OMIM:608763 |
Gastroschisis |
|
Gastroschisis |
ORPHA:2368 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... |
OMIM:608728 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Maxillonasal Dysplasia, Binder Type |
|
Short distal phalanx of finger, Depressed nasal bridge, Short nose, Short columella |
OMIM:155050 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs... |
OMIM:201170 |
Hydrocephalus With Associated Malformations |
|
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Omphalocele, Lower limb... |
OMIM:236640 |
Pyknoachondrogenesis |
|
Muscular edema, Abnormal iliac wing morphology, Short ribs, Palpebral edema, Micromelia, Hypoplas... |
ORPHA:3003 |
X-Linked Ehlers-Danlos Syndrome |
|
Hernia, Thin skin, Inguinal hernia, Umbilical hernia |
ORPHA:75497 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Bulbous nose, Abnormality of femur morphology, Fifth metacarpal with... |
ORPHA:969 |
Cousin Syndrome |
|
Facial hirsutism, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5th fin... |
OMIM:260660 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Dislocated radial head, Flat capital femoral epiphysis, Joint contracture of the hand, Flared met... |
OMIM:612350 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly, Telecanthus, Milia |
OMIM:300484 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Adducted thumb, Micrognathia, Downslanted palpebral fissures, Synophrys, Hypertelorism, Wide nasa... |
ORPHA:3207 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... |
OMIM:611263 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose |
OMIM:218010 |
Otopalatodigital Syndrome, Type I |
|
Short 3rd metacarpal, Broad hallux, Downslanted palpebral fissures, Sandal gap, Omphalocele, Broa... |
OMIM:311300 |
Hypomelanosis Of Ito |
|
Alopecia, Syndactyly, Epicanthus, Iris coloboma, Cataract, Clinodactyly, Radial deviation of fing... |
OMIM:300337 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Flexion contracture, Sparse eyebrow, Arachnodactyly, Sparse eyelashes, Telecan... |
ORPHA:75496 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Retrognathia, Depressed nasal bridge, Epicanthus, Short nose, Anteverted nares, Hypertelorism |
OMIM:614069 |
Teebi Hypertelorism Syndrome 2 |
|
Wide anterior fontanel, Clinodactyly of the 5th finger, Thick eyebrow, Broad nasal tip, Depressed... |
OMIM:619736 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Convex nasal ridge, Cleft ala nasi, Telecanthus, Hypertelorism, Underdeveloped nasal alae, Wide n... |
ORPHA:2007 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Abnormality of the abdominal wall, Metaphyseal cupping, Severe limb shortening, Short ribs, Hypop... |
OMIM:151210 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Sparse hair, Alopecia, Camptodactyly of finger, Onychogryposis of fingernail, Fingernail dysplasi... |
ORPHA:2251 |
Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... |
ORPHA:93323 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Pili torti, 2-3 toe cutaneous syndactyly, Hypoplastic toenails, Sparse scalp hair, Palmar hyperke... |
OMIM:613573 |
Non-Syndromic Metopic Craniosynostosis |
|
Synophrys, Omphalocele |
ORPHA:3366 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Genu recurvatum, Inguinal hernia, Pes planus, Thin skin, Atrophic scars, Calcaneovalgus deformity |
OMIM:225320 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Sy... |
OMIM:601163 |
Bardet-Biedl Syndrome 7 |
|
Deeply set eye, 2-3 toe syndactyly, Postaxial polydactyly, Depressed nasal bridge, Polydactyly, C... |
OMIM:615984 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Low anterior hairline, Sparse eyelashes, Depressed nasal bridge, Thin eyebrow, Hypertelorism, Wid... |
OMIM:617392 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the palpebral fissures, Brachydactyly, Synophrys, ... |
OMIM:612001 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
20P13 Microdeletion Syndrome |
|
Wide anterior fontanel, Deeply set eye, Highly arched eyebrow, Brachydactyly, Microcornea, Polyda... |
ORPHA:313781 |
Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Papule, Aplasia/Hypoplasia of the skin, Progressive flexion contracture... |
ORPHA:2028 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Sparse scalp hair, Fragile nails, Syndactyly, Broad thumb, Thin skin |
OMIM:617364 |
Burn-Mckeown Syndrome |
|
Short palpebral fissure, Bilateral choanal atresia, Short nose, Hypertelorism, Prominent nasal br... |
ORPHA:1200 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
Distal Trisomy 15Q |
|
Arachnodactyly, Micrognathia, Camptodactyly of finger, Downslanted palpebral fissures, Omphalocel... |
ORPHA:1707 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Highly arched eyebrow, Short nose, Hypertelorism, Juvenile cataract, Ptosis |
ORPHA:438178 |
Endove Syndrome, Limb-Only Type |
|
Volar fingernail, Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd fi... |
OMIM:619217 |
Pseudoprogeria Syndrome |
|
Sparse hair, Absent eyebrow, Sparse eyebrow, Alopecia, Thin skin, Absent eyelashes |
ORPHA:2985 |
Velo-Facial-Skeletal Syndrome |
|
Clinodactyly of the 5th finger, Prominent fingertip pads, Telecanthus, Epicanthus, Abnormal thumb... |
ORPHA:3424 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Alopecia, Carious teeth, Telecanthus, Prominent nose, Cu... |
OMIM:203550 |
Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Talipes equinovarus, Short palpebral fissure, Facial hirsutism, Aplasia/H... |
ORPHA:2839 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Wide anterior fontanel, Congenital diaphragmatic hernia, Narrow grea... |
OMIM:263210 |
Omphalocele, Autosomal |
|
Inguinal hernia, Omphalocele |
OMIM:164750 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Growth Factors, Combined Defect Of |
|
Reduced subcutaneous adipose tissue, Flexion contracture, Micrognathia, Plantar hyperkeratosis, L... |
OMIM:233805 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of finger, Large iliac wing, Cone-shaped epiphysis, Abnormality of the pubic bone, Br... |
ORPHA:2511 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hirsutism, Talipes equinovarus, Depressed nasal bridge, Congenital bilateral hip dislocation, Epi... |
ORPHA:85288 |
Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Abnormal foot morphology, Nevus flammeus, Comedo, Abnormal hair morphology,... |
ORPHA:64754 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand ... |
ORPHA:380 |
Trigonocephaly 1 |
|
Synophrys, Omphalocele, Preauricular skin tag |
OMIM:190440 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Micrognathia, Brachydactyly, Camptodactyly, Mesomelia, Ventral hernia, Broad thumb, Long eyelashe... |
OMIM:618529 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
Acromelic Frontonasal Dysostosis |
|
Talipes equinovarus, Preaxial polydactyly, Broad nasal tip, Syndactyly, Bifid nose, Polydactyly, ... |
OMIM:603671 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Bulbous nose, Deeply set eye, Thick eyebrow, Upslanted palpebral fissure, Retrognathia, Downslant... |
OMIM:615979 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand |
OMIM:190680 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Inguinal hernia, Arachnodactyly, Palmoplantar cutis laxa, Thin skin, Atrophic scars |
OMIM:130080 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Camptodactyly of finger, Milia, Thin skin |
ORPHA:1658 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Micrognathia, Short nose, Epicanthus |
ORPHA:2015 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Clinodactyly of the 5th finger, Brachydactyly, Abnormal metacarpal morphology, S... |
ORPHA:2370 |
Deafness-Craniofacial Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Alopecia |
OMIM:125230 |
Cantu Syndrome |
|
Broad first metatarsal, Congenital hypertrophy of left ventricle, Metaphyseal widening, Congenita... |
OMIM:239850 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the legs, Hirsutism, Miscarriage, Talipes equinovarus, Flexion contracture, Short ribs,... |
ORPHA:1865 |
Clouston Syndrome |
|
Nail dysplasia, Blepharitis, Sparse eyebrow, Sparse eyelashes, Alopecia, Abnormality of the hand,... |
OMIM:129500 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Absent eyebrow, Sparse hair, Alopecia, Toenail dysplasia, Palmar telangiectasia, Palpebral edema,... |
OMIM:607823 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Neonatal ... |
OMIM:601376 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Brachydactyly, Downslanted palpebral fissures, Telecanthus, Shor... |
OMIM:601224 |
Nicolaides-Baraitser Syndrome |
|
Abnormality of finger, Short palpebral fissure, Sparse hair, Alopecia, Highly arched eyebrow, Bro... |
ORPHA:3051 |
Focal Dermal Hypoplasia |
|
Alopecia, Hypoplastic pelvis, Abnormal epiphysis morphology, Umbilical hernia, Omphalocele, Diast... |
ORPHA:2092 |
Tetrasomy X |
|
Clinodactyly of the 5th finger, Upslanted palpebral fissure, Brachydactyly, Radioulnar synostosis... |
ORPHA:9 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... |
ORPHA:2831 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity, Coarse metaphyseal trabecularization, Depressed nasal bridge, Death in childhood... |
OMIM:618961 |
Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, 2-3 toe syndactyly, Short metatarsal, Short palpebral fissure, Hy... |
OMIM:614814 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Omphalocele |
OMIM:258320 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Bulbous nose, Short phalanx of finger, Tapered finger, Long fingers, Camptodactyly, Sh... |
OMIM:613458 |
Thumb Deformity And Alopecia |
|
Short thumb, Alopecia |
OMIM:188150 |
Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Short ribs, Micrognathia, Metaphyseal widening, Hypoplastic ilia, Hypoplasti... |
OMIM:614524 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Bil... |
ORPHA:1972 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Upslanted palpebral fissure, Micrognathia, Abnormality of fibula mo... |
ORPHA:3035 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Clinodactyly of the 5th finger, Widely spaced toes, Skin erosion, Tapered d... |
OMIM:609638 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Macroglossia, Wide anterior fontanel, Umbilical hernia, Omphalocele |
OMIM:275100 |
Adult Syndrome |
|
Absent nipple, Sparse scalp hair, Melanocytic nevus, Toenail dysplasia, Split foot, Alopecia, Fin... |
ORPHA:978 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Coxa vara, Scarring, Hiatus hernia, Coxa valga, Inguinal hernia, Micrognathia, Avascular necrosis... |
ORPHA:1901 |
Pterygium Colli, Isolated |
|
Short nose, Low posterior hairline |
OMIM:177990 |
Carpenter Syndrome 1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Omphalocele, Umbilical herni... |
OMIM:201000 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge, Absent eyebrow, Absent eyelashes |
OMIM:200130 |
Fetal Valproate Spectrum Disorder |
|
Epicanthus, Omphalocele |
ORPHA:1906 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... |
OMIM:602032 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Hypoplastic toenails, Toenail dysplasia, Alopecia, Delayed eruption of teeth, ... |
ORPHA:2325 |
Fibrochondrogenesis 1 |
|
Rhizomelia, Omphalocele, Dumbbell-shaped long bone, Short long bone, Hypoplastic toenails, Clinod... |
OMIM:228520 |
Solitary Bone Cyst |
|
Lytic defects of the radius, Muscular edema, Abnormal humeral diaphysis morphology, Abnormality o... |
ORPHA:83468 |
Greig Cephalopolysyndactyly Syndrome |
|
Hirsutism, Abnormal muscle fiber morphology, Joint contracture of the hand, Inguinal hernia, Camp... |
OMIM:175700 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Keratitis, Blepharitis, Nail dysplasia, Sparse eyebrow, Sparse eyelashes, Alopecia, Carious teeth... |
OMIM:612843 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Sparse eyebrow, Alopecia, Sparse body hair, Coarse h... |
ORPHA:3361 |
Orofaciodigital Syndrome Xi |
|
Bulbous nose, Wide nasal bridge, Postaxial polydactyly |
OMIM:612913 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, Short nose, H... |
OMIM:122880 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy, Type E brachydactyly |
OMIM:133690 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Brachydactyly, Limb undergrowth, Epicanthus, Short nose, Hypertelorism, Sh... |
ORPHA:221054 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Talipes equinovarus, Sparse hair, Inguinal hernia, Adducted thumb, Congenital hip dislocation, Th... |
OMIM:219150 |
Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
Dermoodontodysplasia |
|
Nail dysplasia, Thin skin, Trichodysplasia |
OMIM:125640 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia universalis, Sparse body hair, Abnormal eyelash morphology, Melanocyt... |
ORPHA:1008 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Temple-Baraitser Syndrome |
|
Short distal phalanx of finger, Adducted thumb, Hypoplastic thumbnail, Depressed nasal bridge, An... |
OMIM:611816 |
Polydactyly-Myopia Syndrome |
|
Postaxial hand polydactyly, Femoral hernia, Inguinal hernia |
ORPHA:2917 |
Acalvaria |
|
Postaxial hand polydactyly, Talipes, Omphalocele |
ORPHA:945 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Depressed nasal bridge, Hypertelorism, Epicanthus |
OMIM:616911 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hirsutism, Talipes equinovarus, Small hand, Depressed nasal bridge, Epicanthus, Short foot, Hip d... |
OMIM:300434 |
Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... |
ORPHA:2890 |
Chung-Jansen Syndrome |
|
Thick eyebrow, Upslanted palpebral fissure, Micrognathia, Tapered finger, Epicanthus, Short nose,... |
OMIM:617991 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Bulbous nose, Low anterior hairline, Upslanted palpebral fissure, Postaxial polydactyly, Depresse... |
OMIM:615761 |
Pili Torti |
|
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... |
ORPHA:2889 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... |
OMIM:246570 |
Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Short toe, Absent middle phalanx of the 3rd toe, Toenail dysplasia, Aplasia... |
OMIM:615297 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Corneal opacity, Ankyloblepharon, Absent thumb, Toe syndactyly, Aplasia/Hyp... |
ORPHA:1234 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Depressed nasal rid... |
ORPHA:1240 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Alopecia universalis, Congenital alopecia totalis |
OMIM:104130 |
Frontofacionasal Dysplasia |
|
Depressed nasal ridge, Absent inner eyelashes, Dimple on nasal tip, Depressed nasal bridge, Aplas... |
ORPHA:1791 |
Glass Syndrome |
|
Nail dysplasia, Talipes equinovarus, Sparse hair, Inguinal hernia, Arachnodactyly, Micrognathia, ... |
OMIM:612313 |
Non-Distal Trisomy 10Q |
|
Convex nasal ridge, Depressed nasal bridge, Micrognathia, Downslanted palpebral fissures, Short n... |
ORPHA:1695 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Palmoplantar hyperkeratosis, Erythematous plaque, Milia, Thin skin, Abnormality of the lower limb... |
ORPHA:158673 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Brachydactyly, Short nose |
OMIM:618618 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Deeply set eye, Thick eyebrow, Short nose, Synophrys, Mandibular prognathia, Thick hair, Low post... |
ORPHA:2429 |
Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Downslanted palpebral fissures, Single transverse palmar crease, Short no... |
OMIM:206920 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Hirsutism, Deeply set eye, Sparse hair, Upslanted palpebral fissure, Syndactyly, Short nose, Narr... |
OMIM:618087 |
Gand Syndrome |
|
Deeply set eye, Sparse hair, Long toe, Broad nasal tip, Long fingers, Narrow palpebral fissure, H... |
OMIM:615074 |
Trichomegaly |
|
Long eyelashes, Cataract |
OMIM:190330 |
Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Broad nasal tip, Brachydactyly, Bifid nose, Camptodactyly, Postaxi... |
OMIM:136760 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Depressed nasal ridge, Absent radius, Preaxial hand poly... |
ORPHA:2378 |
19Q13.11 Microdeletion Syndrome |
|
Nail dysplasia, Clinodactyly of the 5th finger, Toe clinodactyly, Finger syndactyly, Sparse hair,... |
ORPHA:217346 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Micrognathia, Skin dimple, Thin skin |
ORPHA:261304 |
3M Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, Congenital hip dislocation, Micromelia, Hypoplasti... |
ORPHA:2616 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Short distal phalanx of finger, Abnormality of the nares, Aplastic/hypoplastic toenail, Brachydac... |
ORPHA:1295 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Sparse eyelashes, Depressed nasal bridge, Micr... |
OMIM:616901 |
Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Bartsocas-Papas Syndrome 1 |
|
Ablepharon, Ankyloblepharon, Absent thumb, Alopecia, Skin tags, Alopecia totalis, Cicatricial lag... |
OMIM:263650 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Rhizomelia, Abnormal epiphysis morphology, Omphalocele, Bowing of the long bones, P... |
ORPHA:93267 |
Pierpont Syndrome |
|
Unilateral narrow palpebral fissure, Deeply set eye, Short toe, Prominent fingertip pads, Broad n... |
OMIM:602342 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Micrognathia, Brachydactyly, Short nose, Proptosis, Genu valgum, Short foot, Short met... |
OMIM:614078 |
Cerebellar Ataxia And Ectodermal Dysplasia |
|
Sparse hair, Alopecia |
OMIM:212835 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Orbital Margin, Hypoplasia Of |
|
Congenital extraocular muscle anomaly, Lacrimal duct atresia, Lower eyelid coloboma |
OMIM:165600 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Genu recurvatum, Tendon rupture, Inguinal hernia, Thick eyebrow, Left ventricular hypertrophy, Lo... |
ORPHA:230851 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Convex nasal ridge, Alopecia, Carious teeth, Enamel hypoplasia, Ridged nail |
OMIM:614564 |
Prieto Syndrome |
|
Talipes equinovarus, Coxa valga, Inguinal hernia, 11 pairs of ribs, Epicanthus, Skin dimple, Pate... |
OMIM:309610 |
Edinburgh Malformation Syndrome |
|
Hirsutism, Generalized hirsutism, Slender finger, Micrognathia, Long fingers, Ulnar deviation of ... |
ORPHA:1895 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly |
OMIM:210350 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Supernumerary nipple, Inguinal hernia, Aplasia/Hypoplasia of the eyebrow, Abnormality of fibula m... |
ORPHA:1812 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Metaphyseal dysplasia, Anetoderma, Dermal atrophy |
OMIM:250450 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Nail dysplasia, Hypermelanotic macule, Palmar hyperkeratosis, Alopecia, Plantar hyperkeratosis, M... |
ORPHA:79397 |
Prolidase Deficiency |
|
Hirsutism, Generalized hirsutism, Low anterior hairline, Abnormal hip bone morphology, Arachnodac... |
ORPHA:742 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Focal Facial Dermal Dysplasia Type I |
|
Low anterior hairline, Sparse hair, Skin dimple, Distichiasis, Absent eyelashes, Atrophic scars, ... |
ORPHA:79133 |
Joubert Syndrome 10 |
|
Hirsutism, Postaxial polydactyly, Downslanted palpebral fissures, Epicanthus, Wide nasal bridge |
OMIM:300804 |
Phenobarbital Embryopathy |
|
Brachydactyly, Epicanthus, Abnormal nasal base, Aplasia/Hypoplasia of the nails, Mandibular progn... |
ORPHA:1919 |
3Mc Syndrome 1 |
|
Abnormality of the abdominal wall, Wide anterior fontanel, Clinodactyly of the 5th finger, Supern... |
OMIM:257920 |
Monilethrix |
|
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... |
ORPHA:573 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Convex nasal ridge, Talipes equinovarus, Smal... |
ORPHA:85172 |
Short Syndrome |
|
Short palm, Corneal opacity, Deeply set eye, Abnormal pupil morphology, Sparse hair, Alopecia, Ab... |
ORPHA:3163 |
Adult Syndrome |
|
Absent nipple, Sparse scalp hair, Fair hair, Split foot, Sparse axillary hair, Alopecia of scalp,... |
OMIM:103285 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Convex nasal ridge, Short metatarsal, Split foot, Broad hallux phalanx, Symph... |
ORPHA:1540 |
Split-Hand/Foot Malformation 6 |
|
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Congenital hip dislocation, Omphalocele |
OMIM:614450 |
Orofaciodigital Syndrome X |
|
Hand oligodactyly, Depressed nasal bridge, Coalescence of tarsal bones, Fibular aplasia, Preaxial... |
OMIM:165590 |
Ring Chromosome 6 Syndrome |
|
Short distal phalanx of finger, Wide nasal bridge, Epicanthus, Hypertelorism, Low posterior hairline |
ORPHA:1448 |
Hernia, Double Inguinal |
|
Inguinal hernia |
OMIM:142350 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Small nail, Talipes equinovarus, Recurrent upper respiratory tract infections, Congenital hip dis... |
OMIM:300209 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly |
ORPHA:141333 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Bulbous nose, Deeply set eye, Micrognathia, Brachydactyly, Camptodactyly, Downslanted palpebral f... |
OMIM:613604 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Bulbous nose, Deeply set eye, Clinodactyly of the 5th finger, Low anterior hairline, Depressed na... |
OMIM:618828 |
Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Femoral bowing, Ulnar deviation of finger, Single transverse palmar crease, Contract... |
OMIM:601559 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short distal phalanx of finger, Alopecia, Aplasia/Hypoplasia of the clavicles, Micrognathia, Abno... |
ORPHA:90154 |
Keipert Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the distal ... |
ORPHA:2662 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Sparse eyebrow, Depressed nasal bridge, Absent lacrimal punctum, ... |
OMIM:167730 |
Velofacioskeletal Syndrome |
|
Prominent fingertip pads, Broad palm, Short thumb, Epicanthus, Short foot, Hypertelorism, Promine... |
OMIM:600736 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Brachydactyly, Cariou... |
ORPHA:2701 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Bowing of the legs, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical scler... |
OMIM:112250 |
17P13.3 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Congenital hip dislocation, Downslanted palpebral fissures, Wide ... |
ORPHA:217385 |
Alopecia-Intellectual Disability Syndrome |
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Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormal nasal morphology, Sparse... |
ORPHA:2850 |
Donnai-Barrow Syndrome |
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Wide anterior fontanel, Congenital diaphragmatic hernia, Downslanted palpebral fissures, Umbilica... |
ORPHA:2143 |
Acrodysostosis |
|
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, M... |
ORPHA:950 |
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Keratitis, Upslanted palpebral fissure, Depressed nasal bridge, Broad eyebrow, Anteverted nares, ... |
OMIM:122430 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Micromelia, Radioulnar synostosis, Downslanted palpebral fissures, Hypo... |
ORPHA:3258 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Micromelia, Brachy... |
OMIM:617895 |
Mesomelic Dysplasia, Savarirayan Type |
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Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
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Depressed nasal bridge, Polydactyly, Epicanthus, Short nose, Hypoplastic ischia, Hypertelorism |
OMIM:616910 |
Whistling Face Syndrome, Recessive Form |
|
Hypertelorism, Short palpebral fissure, Talipes equinovarus, Micrognathia, Ulnar deviation of fin... |
OMIM:277720 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
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Reduced subcutaneous adipose tissue, Ulnar deviation of the hand, Flexion contracture, Alopecia, ... |
OMIM:612079 |
Intellectual Disability, Wolff Type |
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Short distal phalanx of finger, Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, ... |
ORPHA:3080 |
Fibromatosis, Gingival, With Distinctive Facies |
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Persistence of primary teeth, Thick eyebrow, Depressed nasal bridge, Downslanted palpebral fissur... |
OMIM:228560 |
Orofaciodigital Syndrome Iv |
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Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Epicanthus, Short finger, Clinod... |
OMIM:258860 |
Mietens Syndrome |
|
Coxa vara, Corneal opacity, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplas... |
ORPHA:2557 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
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Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Dental malocclusion, Short toe, Depressed nasal bridge, Abnormali... |
ORPHA:1327 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Upslanted palpebral fissure, Alopecia, Depressed nasal bridge, Micrognathia, Flared metaphysis, R... |
OMIM:215100 |
Silver-Russell Syndrome 2 |
|
Micrognathia, Clinodactyly of the 5th finger, Thin skin, 2-3 toe syndactyly |
OMIM:618905 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Camptodactyly, Telecanthus, Milia, Hand polydactyly, Toe syndactyly |
OMIM:258865 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Wide anterior fontanel, Abnormal femoral neck/head morphology, Slender finger, Wide proximal femo... |
ORPHA:163649 |
Opsismodysplasia |
|
Hypoplastic vertebral bodies, Hypoplastic pubic bone, Brachydactyly, Tapered finger, Hypoplastic ... |
ORPHA:2746 |
Woolly Hair |
|
Abnormality of hair texture, Abnormal pupil morphology, Woolly hair, Brittle hair, Sparse body ha... |
ORPHA:170 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Congenital absence of skin of limbs, Aplasia cutis congenita |
OMIM:600360 |
Kennerknecht syndrome |
|
Toe clinodactyly, Long eyelashes, Omphalocele, Acetabular dysplasia, Toe syndactyly |
OMIM:600908 |
Short Syndrome |
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Lipoatrophy, Inguinal hernia, Micrognathia, Telecanthus, Lipodystrophy, Clinodactyly, Thin skin, ... |
OMIM:269880 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Aplasia cutis congenita on trunk or limbs, Skin erosion, Palmoplantar hyperkeratosis, Abnormal fi... |
ORPHA:89838 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Sparse hair, Thin skin, Abnormal fingernail morphology |
ORPHA:1810 |
Charlie M Syndrome |
|
Micrognathia, Brachydactyly, Wide nasal bridge, Abnormal fingernail morphology, Abnormal metacarp... |
ORPHA:1406 |
Mandibuloacral Dysplasia |
|
Increased adipose tissue around the neck, Short clavicles, Lipoatrophy, Sparse hair, Alopecia, Mi... |
ORPHA:2457 |
Split-Hand/Foot Malformation 2 |
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Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair, Limb undergrowth, Epicanthus, Rhizomelia, Abnormal epiphysis morpholo... |
ORPHA:177 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Delayed ossification of carpal bones, Micrognathia, Flared metaphysis, Aplasia/hypoplasia involvi... |
ORPHA:93346 |
Localized Junctional Epidermolysis Bullosa |
|
Mitten deformity, Skin detachment, Sparse axillary hair, Dystrophic fingernails, Sparse pubic hai... |
ORPHA:251393 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Bilateral talipes equinovarus, Depressed nasal bridge, Pr... |
OMIM:618142 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail |
ORPHA:169095 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Short palpebral fissure, Low posterior hairline, Downslanted palpebral fissures, Sh... |
OMIM:611936 |
C Syndrome |
|
Dislocated radial head, Upslanted palpebral fissure, Micrognathia, Micromelia, Ulnar deviation of... |
OMIM:211750 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
Orofaciodigital Syndrome Vi |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Broad nasal tip, Micrognathia, Brachydactyly, ... |
OMIM:277170 |
Frontofacionasal Dysplasia |
|
Ankyloblepharon, Absent inner eyelashes, S-shaped palpebral fissures, Bifid nose, Microcornea, Te... |
OMIM:229400 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Abnormal forearm morphology, Subcutaneous nodule, Papule, Abnormality of the wrist, Milia, Skin p... |
ORPHA:89843 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Short palpebral fissure, Inguinal hernia, Flexion contracture, Micrognathia, Lon... |
OMIM:608149 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Micrognathia, Ulnar deviation of the wrist, Short nose, Proptosis, Long eyelashes, Clinodactyly, ... |
OMIM:618577 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Inguinal hernia, Bilateral talipes equinovarus, Finger clinodactyly, Epicanthus, Skin dimple, Pat... |
ORPHA:2958 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Bulbous nose, Depressed nasal bridge, Brachydactyly, Enamel hypoplasia, Epicanthus, Sandal gap, A... |
OMIM:600991 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Areflexia of lower limbs, Inguinal hernia, Fiber type grouping, Interosseus muscle atrophy, Thena... |
OMIM:619903 |
Fibrochondrogenesis |
|
Wide anterior fontanel, Short ribs, Camptodactyly of finger, Micromelia, Brachydactyly, Downslant... |
ORPHA:2021 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse hair, Highly arched eyebrow, Abnormal hair pattern, Aplasia/Hypoplasia of the skin, Downsl... |
ORPHA:1807 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Deeply set eye, Patchy alopecia, Short mandibular rami, Poliosis, Delayed er... |
OMIM:141300 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Mosaic Trisomy 1 |
|
2-3 finger syndactyly, Finger clinodactyly, Single transverse palmar crease, Downslanted palpebra... |
ORPHA:1692 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Flexion contracture, Inguinal hernia, Pes planus, Narrow palpebral fissure, Thin ski... |
OMIM:614438 |
Rapp-Hodgkin Syndrome |
|
Progressive alopecia, Small nail, Sparse hair, Absent lacrimal punctum, Syndactyly, Decreased num... |
OMIM:129400 |
Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Long eyebrows, Central heterochromia |
OMIM:275400 |
Laurin-Sandrow Syndrome |
|
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... |
OMIM:135750 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Hypotelorism, Upslanted palpebral fissure, Broad nasal tip, Single transverse palmar crease, Epic... |
OMIM:613544 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Depressed nasal bridge, Abnormality of the wrist, Epicanthus, Abnormal thumb m... |
ORPHA:1825 |
Kosaki Overgrowth Syndrome |
|
Downslanted palpebral fissures, Thin skin, Long foot, Ptosis |
OMIM:616592 |
Pfeiffer Syndrome |
|
Elbow ankylosis, Humeroradial synostosis, Depressed nasal bridge, Shallow orbits, Short middle ph... |
OMIM:101600 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Anteverted nares, Wide nasal bridge, Postaxial polydactyly |
OMIM:617127 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Amelia, Foot oligodactyly, Omphalocele, Short femur |
OMIM:601357 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Short ribs, Hypo... |
OMIM:613330 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Talipes equinovarus, Omphalocele, Prune belly |
OMIM:601389 |
Teebi Hypertelorism Syndrome 1 |
|
Upslanted palpebral fissure, Small hand, Micrognathia, Preauricular pit, Hypopigmented macule, Br... |
OMIM:145420 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Thick eyebrow, Depressed nasal bridge, Delayed eruption of teeth, Downslanted palpebral fissures,... |
ORPHA:2025 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Woolly scalp hair, Woolly hair, Alopecia |
OMIM:601217 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Short metacarpal, Depressed nasal bridge, Cone-shaped epiphysis, Brachydactyly, Short ... |
OMIM:614613 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela... |
OMIM:234050 |
2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Long fingers, Downslanted pa... |
ORPHA:1617 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Retrognathia, Broad nasal tip, Downslanted palpebral fissures, Short nose, Hypertelorism |
OMIM:613670 |
Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Toe clinodactyly, Camptodactyly of toe, Depressed nasal tip,... |
OMIM:300244 |
Distal Trisomy 18Q |
|
Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia, Camptodactyly of finger, Bilateral ... |
ORPHA:1716 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Depressed nasal ridge, Polydactyly, Postaxial hand polydactyly, Short nose |
OMIM:613885 |
Opsismodysplasia |
|
Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Shallow orbits, Long palpebr... |
OMIM:258480 |
9q subtelomeric deletion syndrome |
|
Anteverted nares, Short nose, Synophrys |
DECIPHER:52 |
Nablus Mask-Like Facial Syndrome |
|
Low anterior hairline, Short palpebral fissure, Sparse eyebrow, Sparse eyelashes, Retrognathia, D... |
OMIM:608156 |
Monosomy 5P |
|
Microretrognathia, Inguinal hernia, Small hand, Preauricular skin tag, Downslanted palpebral fiss... |
ORPHA:281 |
Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
Bardet-Biedl Syndrome 19 |
|
Polydactyly, Hyposmia |
OMIM:615996 |
Clark-Baraitser Syndrome |
|
Low hanging columella, Upslanted palpebral fissure, Depressed nasal bridge, Epicanthus, Short nos... |
OMIM:617752 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Retrognathia, Micrognathia, Short nose, Proptosis, Mandibular aplasia, Ant... |
ORPHA:1832 |
Chromosome 9P Deletion Syndrome |
|
Fair hair, Inguinal hernia, Upslanted palpebral fissure, Clinodactyly of the 4th toe, Micrognathi... |
OMIM:158170 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dysplasia, Camptodactyly of finger, Palmoplantar hyperkeratosis, Alopecia totalis, Developme... |
OMIM:212360 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Popliteal pterygium, Downslanted palpebral fi... |
OMIM:119800 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Generalized hirsutism, Lipoatrophy, Cellulitis, Skeletal muscle hypertrophy, Xanthomatosis, Abnor... |
ORPHA:2348 |
Char Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, Broad nasal tip, Distal/middle symphalangism of 5t... |
OMIM:169100 |
Erythrokeratodermia Variabilis |
|
Corneal opacity, Generalized hirsutism, Alopecia, Brachydactyly, Tapered finger, Patchy palmoplan... |
ORPHA:317 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Renpenning Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hairshaft morphology, Upslanted palpebral fissure, Alope... |
ORPHA:3242 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short distal phalanx of finger, Depressed nasal bridge, Short nose, Short nasal septum, Anosmia, ... |
OMIM:302950 |
Widow'S Peak Syndrome |
|
Inguinal hernia, Abnormality of the hand, High iliac wing, Arthralgia of the hip, Widow's peak, N... |
OMIM:314570 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Ptosis, Congenital diaphragmatic hernia, Alopecia, Skin tags, Con... |
ORPHA:1647 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
3Mc Syndrome 3 |
|
Diastasis recti, Preaxial polydactyly, Highly arched eyebrow, Radioulnar synostosis, Epicanthus i... |
OMIM:248340 |
Microphthalmia With Limb Anomalies |
|
Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bone, Elbow dislo... |
ORPHA:1106 |
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Preaxial hand polydactyly |
OMIM:601420 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand |
OMIM:612576 |
Familial Cervical Artery Dissection |
|
Abnormality of connective tissue, Facial palsy, Striae distensae, Thin skin |
ORPHA:36382 |
Trisomy 4P |
|
Low anterior hairline, Thick eyebrow, Depressed nasal bridge, Radial club hand, Camptodactyly of ... |
ORPHA:1738 |
Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Cone-shaped epiphysis, Micromeli... |
ORPHA:166272 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad metacarpals, Hirsutism, Osteolysis involving bones of the lower limbs, Localized skin lesio... |
ORPHA:371428 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Deeply set eye, Convex nasal ridge, Sparse hair, Micrognathia, Death in childhood, Camptodactyly ... |
OMIM:610756 |
Oculodentodigital Dysplasia |
|
Sparse hair, Microcornea, Carious teeth, Short nose, Cataract, Slow-growing hair, Abnormal metaph... |
ORPHA:2710 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Abnormal eyebrow morphology, Flexion contracture, Alopecia, Aplas... |
ORPHA:90153 |
Non-Distal Trisomy 13Q |
|
Hypoplastic toenails, Hypotelorism, Thick eyebrow, Arachnodactyly, Micrognathia, Abnormal fingern... |
ORPHA:1702 |
Joubert Syndrome 40 |
|
Almond-shaped palpebral fissure, Postaxial polydactyly |
OMIM:619582 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Dislocated radial head, Fragmented epiphys... |
ORPHA:166016 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hirsutism, Micrognathia, Downslanted palpebral fissures, Hypoplasia of the ulna, Wide nose, Thick... |
ORPHA:357175 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
ORPHA:2484 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Brachydactyly, Short thumb, Limited elbow extension and supination, Downs... |
ORPHA:401935 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial poly... |
OMIM:617866 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Depressed nasal bridge, Short 1st metacarpal, Monkey wrench f... |
OMIM:251450 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Bulbous nose, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Short nose, Cat... |
OMIM:614105 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Bulbous nose, Low hanging columella, Upslanted palpebral fissure, Retrognathia, ... |
OMIM:613792 |
Wiedemann-Steiner Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Thick eyebrow, Depressed nasal tip, Short phalanx of f... |
OMIM:605130 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Nail dysplasia, Congenital localized absence of skin, Syndactyly, Enamel hypoplasia, Milia, Death... |
OMIM:226700 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Brittle hair, Upslanted palpebral fissure, Alopecia, Bilateral single transverse palmar creases, ... |
ORPHA:50812 |
Periventricular Nodular Heterotopia |
|
Hernia, Shoulder dislocation, Thin skin, Patellar dislocation |
ORPHA:98892 |
Rothmund-Thomson Syndrome, Type 2 |
|
Sparse hair, Sparse eyebrow, Alopecia, Depressed nasal bridge, Congenital hip dislocation, Delaye... |
OMIM:268400 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Prominent nasal tip, Thick eyebrow, Short palpebral fissure, Decreased palmar creases, Upslanted ... |
OMIM:615834 |
Manitoba Oculotrichoanal Syndrome |
|
Abnormal hair morphology, Nasolacrimal duct obstruction, Omphalocele, Eyelid coloboma |
OMIM:248450 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Acetabular spurs, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Depressed nasal br... |
OMIM:615503 |
White Forelock With Malformations |
|
Poliosis, White forelock, Hypertelorism, Aplasia/Hypoplasia of the distal phalanges of the toes |
OMIM:277740 |
Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal hair quantity, Euryblepharon, Carious teeth, Distichiasis, Hypertelorism, Ectropion of l... |
ORPHA:1997 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... |
OMIM:617102 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Bulbous nose, Depressed nasal bridge, Tapered finger, Downslanted palpebral fissures, Single tran... |
OMIM:617061 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology, Alopecia, Hyperconvex fingernails, Papule, Aplasia/Hypoplasia ... |
ORPHA:257 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Upslanted palpebral fissure, Depressed nasal bridge, Short nose, Anteverted nares, Hypertelorism |
OMIM:613443 |
Trisomy 12P |
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Clinodactyly of the 5th finger, Thick eyebrow, Supernumerary nipple, Micrognathia, Epicanthus, Sh... |
ORPHA:1699 |
Diabetes Insipidus, Neurohypophyseal |
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Wide nose, Short nose |
OMIM:125700 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Diastasis recti, Overlapping toe, Flexion contracture of finger, Inguinal hernia, Flexion contrac... |
ORPHA:254528 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
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Sparse body hair, Anonychia, Enamel hypoplasia, Milia, Nail dystrophy, Atrophic scars, Palmoplant... |
ORPHA:79402 |
Combined Oxidative Phosphorylation Deficiency 25 |
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Depressed nasal bridge, Short nose, Anteverted nares, Hypertelorism, Wide nasal bridge |
OMIM:616430 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Micrognathia, Short middle phalanx of toe, Enamel hypoplasia, Downslanted palpebral fissures, Sho... |
OMIM:251190 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
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Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... |
OMIM:601560 |
Woolly Hair, Autosomal Recessive 3 |
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Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:616760 |
Eiken Syndrome |
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Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Femoral-Facial Syndrome |
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Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Inguinal hernia, Short femur, Up... |
ORPHA:1988 |
Fibrodysplasia Ossificans Progressiva |
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Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Alopecia, Shor... |
ORPHA:337 |
Infantile Spasms-Broad Thumbs Syndrome |
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Convex nasal ridge, Micrognathia, Downslanted palpebral fissures, Broad thumb, Cataract, Hypertel... |
ORPHA:3173 |
Lenz-Majewski Hyperostotic Dwarfism |
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Sparse hair, Proximal symphalangism of hands, Inguinal hernia, Hyperextensibility of the finger j... |
OMIM:151050 |
Cataract, Aberrant Oral Frenula, And Growth Retardation |
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Short palpebral fissure, Upslanted palpebral fissure, Posterior polar cataract, Epicanthus, Short... |
OMIM:115645 |
Meier-Gorlin Syndrome 1 |
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Hyperconvex nail, Absent glenoid fossa, Genu valgum, Long eyelashes, Absent sternal ossification,... |
OMIM:224690 |
Pde4D Haploinsufficiency Syndrome |
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Broad phalanx, Depressed nasal bridge, Cone-shaped epiphysis, Upper limb undergrowth, Broad hallu... |
ORPHA:439822 |
Dyggve-Melchior-Clausen Disease |
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Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Short... |
ORPHA:363417 |
Ablepharon-Macrostomia Syndrome |
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Ablepharon, Clinodactyly of the 5th finger, Talipes equinovarus, Cryptophthalmos, Absent eyebrow,... |
OMIM:200110 |
L-Ferritin Deficiency |
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Alopecia |
OMIM:615604 |
Candidiasis, Familial, 1 |
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Alopecia |
OMIM:114580 |
Crandall Syndrome |
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Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair |
ORPHA:202 |
Johnson Neuroectodermal Syndrome |
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Bulbous nose, Absent eyebrow, Sparse hair, Alopecia, Carious teeth, Downslanted palpebral fissure... |
ORPHA:2316 |
Keipert Syndrome |
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Broad distal phalanx of finger, Brachydactyly, Broad hallux, Wide nose, Broad thumb, Prominent no... |
OMIM:301026 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
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Dislocation of the femoral head, Hip contracture, Cone-shaped epiphyses of the phalanges of the h... |
OMIM:210730 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Microgna... |
OMIM:617925 |
Dyggve-Melchior-Clausen Disease |
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Broad carpal bones, Abnormality of the ankles, Abnormal femoral head morphology, Hypoplasia of th... |
ORPHA:239 |
Martsolf Syndrome 2 |
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Overlapping toe, Broad nasal tip, Camptodactyly of finger, Camptodactyly, Cataract, Developmental... |
OMIM:619420 |
Vitamin K Antagonist Embryofetopathy |
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Short distal phalanx of finger, Depressed nasal bridge, Brachydactyly, Short nose, Proptosis, Cho... |
ORPHA:1914 |
Flynn-Aird Syndrome |
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Alopecia, Alopecia of scalp, Cataract, Carious teeth |
OMIM:136300 |
Trisomy 1Q |
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Hypoplastic toenails, Microretrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Camptod... |
ORPHA:261344 |
Rudiger Syndrome |
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Flexion contracture, Inguinal hernia, Single transverse palmar crease, Hypoplastic fingernail, De... |
OMIM:268650 |
Gms Syndrome |
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Small hand, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Short nose, Riege... |
OMIM:138770 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
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Upslanted palpebral fissure, Broad hallux phalanx, Mandibular prognathia, Hypertelorism, Toe synd... |
ORPHA:168624 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
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Supernumerary nipple, Alopecia, Abnormal nasal morphology, Short hallux, Abnormal metacarpal morp... |
ORPHA:3224 |
Pentasomy X |
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Clinodactyly of the 5th finger, Upslanted palpebral fissure, Small hand, Micrognathia, Camptodact... |
ORPHA:11 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
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Nail dysplasia, Limited pronation/supination of forearm, Rhizo-meso-acromelic limb shortening, Th... |
ORPHA:163654 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Diastasis recti, Sparse eyebrow, Bifid distal phalanx of toe, Highly arched eyebrow, Frontal upsw... |
OMIM:618419 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Reduced subcutaneous adipose tissue, Acroosteolysis of distal phalanges (feet), Osteolytic defect... |
ORPHA:280365 |
Intellectual Developmental Disorder, X-Linked 21 |
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Upslanted palpebral fissure, Short nose, Synophrys, Mandibular prognathia, Hypertelorism |
OMIM:300143 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
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Hypertelorism, Prominent fingertip pads, Retrognathia, Broad nasal tip, Recurrent upper respirato... |
ORPHA:391372 |
Rhizomelic Syndrome, Urbach Type |
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Short distal phalanx of finger, Wide anterior fontanel, Abnormal hair quantity, Micrognathia, Abn... |
ORPHA:3098 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
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Premature graying of hair, Deeply set eye, Retrognathia, Abnormality of the nares, Small hand, Br... |
OMIM:300845 |
Kury-Isidor Syndrome |
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Hypertrichosis, Deeply set eye, Talipes equinovarus, Alopecia, Brachydactyly, Proximal placement ... |
OMIM:619762 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
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Stillbirth, Thin skin |
OMIM:259410 |
Satoyoshi Syndrome |
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Alopecia universalis, Skeletal muscle hypertrophy, Alopecia, Brachydactyly, Osteolytic defects of... |
OMIM:600705 |
Waardenburg Syndrome Type 1 |
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Thick eyebrow, White hair, Hypopigmentation of hair, Telecanthus, Short nose, White eyebrow, Whit... |
ORPHA:894 |
Codas Syndrome |
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Depressed nasal bridge, Congenital hip dislocation, Brachydactyly, Delayed eruption of teeth, Abn... |
ORPHA:1458 |
Pparg-Related Familial Partial Lipodystrophy |
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Generalized hirsutism, Lipoatrophy, Skeletal muscle hypertrophy, Xanthomatosis, Calf muscle pseud... |
ORPHA:79083 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
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Preaxial polydactyly |
ORPHA:2921 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
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Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Clinodact... |
ORPHA:521308 |
Cornelia De Lange Syndrome 5 |
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Broad nasal tip, Depressed nasal bridge, Long eyelashes, Deeply set eye, Clinodactyly of the 5th ... |
OMIM:300882 |
Carpenter Syndrome |
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Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... |
ORPHA:65759 |
Saul-Wilson Syndrome |
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Short distal phalanx of finger, Wide anterior fontanel, Cone-shaped epiphyses of the phalanges of... |
OMIM:618150 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Multiple joint contractures, Slender long bones with narrow diaphyses, Talipes equinovalgus, Abno... |
ORPHA:536471 |
5Q14.3 Microdeletion Syndrome |
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