Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

aristaless-like homeobox 4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Alx4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Alx4 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Alx4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Polydactyly, Postaxial, Type A6
Postaxial hand polydactyly, Broad phalanges of the 5th finger OMIM:615226
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
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Gastroschisis, Abdominal wall defect OMIM:230750
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Banki Syndrome
Clinodactyly, Radial deviation of finger OMIM:109300
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx of 5th finger, Abs... OMIM:218530
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, Hypertelorism, Epicanthus, Death in infancy, Cataract, Downslanted palpebra... OMIM:614882
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Oculomotor-Levator Synkinesis
Ptosis, Abnormal eyelid morphology, Eyelid retraction OMIM:151610
Multiple Epiphyseal Dysplasia, Lowry Type
Genu valgum, Hypertelorism, Elbow dislocation, Rhizomelia, Upslanted palpebral fissure, Flattened... ORPHA:166016
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... OMIM:200700
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Arthrochalasia Ehlers-Danlos Syndrome
Hip dysplasia, Thin skin, Scarring, Epicanthus, Avascular necrosis of the capital femoral epiphys... ORPHA:1899
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Omphalocele, Aplasia/Hypoplasia of the radius, Aplasia/h... ORPHA:2141
Mental Retardation, X-Linked 91
Cubitus valgus, Short nose, Clinodactyly, Small hand, Short foot, Low posterior hairline, Short 5... OMIM:300577
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
17Q21.31 Microduplication Syndrome
Toe syndactyly, Short nose, Micrognathia, Epicanthus, Synophrys, Sandal gap, Thick eyebrow, Gener... ORPHA:217340
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Hypertelorism, High anterior hairline, Thick nasal alae, Wide nasal bridge, Long palpebral fissur... OMIM:618147
Orofaciodigital Syndrome Xviii
Genu valgum, Short middle phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Single ... OMIM:617927
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly ORPHA:2091
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Membranous Cranial Ossification, Delayed
Downslanted palpebral fissures, Hypertelorism, Depressed nasal bridge OMIM:155980
X-Linked Intellectual Disability, Stoll Type
Hypertelorism, Widow's peak, Hypoplastic nasal bridge, Broad nasal tip, Clinodactyly of the 5th f... ORPHA:85326
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Abnormality of the nail, Sparse eyelashes, Complete duplication of the 1st metatarsal, Preaxial p... OMIM:129540
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, Metaphyseal irregularit... OMIM:184250
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short 2nd toe, Short thumb OMIM:176305
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Downslanted palpebral fissures, Thin skin, Flexion contracture, Thenar muscle atrophy, Absent pal... ORPHA:157965
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Familial Intestinal Malrotation
Long palpebral fissure, Hypertelorism, Anteverted nares, Depressed nasal bridge ORPHA:508410
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Pseudodiastrophic Dysplasia
Elbow dislocation, Phalangeal dislocation, Rhizomelia, Omphalocele, Talipes equinovarus ORPHA:85174
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Finger syndactyly, Abnormality ... ORPHA:1263
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Palmoplantar keratoderma, Sparse and thin eyebrow, Alopecia, S... ORPHA:2722
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Synophrys, Wide nasal... ORPHA:1278
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyelashes, Absent eyebrow ORPHA:701
Microcephaly 4, Primary, Autosomal Recessive
Thick eyebrow, Micrognathia, Hypertelorism, Synophrys OMIM:604321
Anteverted nares, Short nose OMIM:180360
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Wide nasal base, Broad thumb, Sparse hair, Deeply set eye, Upslanted palpebral fissure, Short pal... OMIM:617763
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Dermal atrophy, Type E brachydactyly, Macule, Aplasia/Hypoplasia of the skin ORPHA:1962
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Anteverted nares, Short nose, Depressed nasal ridge ORPHA:1355
Parc Syndrome
Microretrognathia, Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Craniodigital-Intellectual Disability Syndrome
Short nose, Finger syndactyly, Thick hair, Long eyelashes, Thick eyebrow, Generalized hirsutism, ... ORPHA:1514
Familial Articular Hypermobility Syndrome
Abnormality of the knee, Congenital hip dislocation, Abnormality of the elbow, Shoulder dislocati... ORPHA:2295
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Mesomelic arm shortening, Broad toe, Delayed ossification of c... OMIM:609616
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Irregular epiphyses, Narrow iliac wing, Hypoplastic pubic bone, Short lo... OMIM:608728
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Hypertelorism, Short nose, Blepharophimosis, Toe syndactyly, Deeply set ey... ORPHA:261120
Coxopodopatellar Syndrome
Hip dysplasia, Aplasia/Hypoplasia of the patella, Abnormality of pelvic girdle bone morphology, A... ORPHA:1509
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Polydactyly, Atypical scarring of skin, Syndactyly, Abnormal h... ORPHA:294975
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Pear-shaped nose, Preaxial hand polydactyly, Sparse hair, Widow's peak, Interphalangeal joint con... OMIM:606242
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Craniofacial-Deafness-Hand Syndrome
Lacrimal duct atresia, Camptodactyly of finger, Hypertelorism, Short nose, Blepharophimosis, Hypo... ORPHA:1529
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Hypertelorism, Short nose, Epicanthus, Pneumonia, Retrognathia, Anteverted nares, Chronic bronchi... OMIM:614069
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Thin skin, Lipoatrophy, Small hand, Aplasia/Hypoplasia of the skin, Short foot, Micrognathia, Fin... ORPHA:2500
Ring Chromosome 8 Syndrome
Low posterior hairline, Anteverted nares, Short nose, Deviation of finger ORPHA:1450
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Dermal atrophy, Alopecia of scalp, Alopecia, Dystrophic toen... OMIM:617294
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Elbow flexion contracture, Femoral bowing, Hypoplas... OMIM:276820
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis, Patchy alopecia OMIM:104000
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Large hands, Synophrys, Broad nasal tip, Low posterior hairline ORPHA:85287
Leri-Weill Dyschondrosteosis
Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bones, Abnormal... OMIM:127300
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Absent toenail, Hypoplastic toenails, Aplasia cutis congenita, Absent fingernail, Pes planus, Abs... ORPHA:79499
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Epicanthus, Omphalocele, Sacral dimple ORPHA:531
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Decreased muscle mass, Cigarette-paper scars, Genu recurvatum, Pes planus, Narrow palpebral fissu... OMIM:608763
Trichodysplasia, Abnormal eyelid morphology, Thin skin, Melanocytic nevus, Fingernail dysplasia, ... ORPHA:1660
Bifid Nose
Bifid nose, Hypertelorism ORPHA:2695
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Absent forearm, Overlapping toe, Wide anterior fontanel, Micrognathia, Thin skin, D... OMIM:201170
Aplastic pubic bones, Short iliac bones, Palpebral edema, Webbed neck, Muscular edema, Abnormal i... ORPHA:3003
Bardet-Biedl Syndrome 22
Polydactyly OMIM:617119
Hydrocephalus With Associated Malformations
Omphalocele, Tibial bowing, Lower limb undergrowth, Short lower limbs, Micrognathia, Abnormal foo... OMIM:236640
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Hypertelorism, Overlapping toe, Micrognathia, Upslanted palpebral fissure, Epicanthus, Broad eyeb... OMIM:617755
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Short columella, Short nose, Depressed nasal bridge OMIM:155050
Gastroschisis ORPHA:2368
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Micrognathia, Dislocated radial hea... OMIM:260660
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
X-Linked Ehlers-Danlos Syndrome
Thin skin, Inguinal hernia, Hernia, Umbilical hernia ORPHA:75497
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Camptodactyly of finger, Cigarette-paper scars, Short phalanx of finger, ... OMIM:612350
Orofaciodigital Syndrome Viii
Polydactyly, Syndactyly, Milia, Short tibia, Telecanthus OMIM:300484
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Hypertelorism, Micrognathia, Synophrys, Wide nasal bridge, Downslanted palpebral fissures, Adduct... ORPHA:3207
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Convex nasal ridge, Hypertelorism, Underdeveloped nasal alae, Cleft ala nasi, Wide nasal bridge, ... ORPHA:2007
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Acromicric Dysplasia
Abnormality of femur morphology, Abnormal eyebrow morphology, Short nose, Bulbous nose, Abnormali... ORPHA:969
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Omphalocele, Short distal phalanx of finger, Sandal gap... OMIM:311300
Hypomelanosis Of Ito
Hypertelorism, Hand polydactyly, Iris coloboma, Epicanthus, Radial deviation of finger, Cataract,... OMIM:300337
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Broad palm, Rhizomelia, Mesomelia, Short metacarpal, Short foot, Brac... OMIM:611263
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Short finger, Alopecia totalis, Death in childhood, Tapered finger OMIM:302000
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Palmoplantar cutis gyrata, Thin skin, Atrophic scars, Atypical scarring of skin, Flexion contract... ORPHA:75496
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Omphalocele, Amelia, Syndactyly, Abnormality of the diaphragm, Congenital diaphra... OMIM:601163
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Severe limb shortening, Limb under... OMIM:151210
Orofaciodigital Syndrome Type 10
Prominent calcaneus, Oligodactyly, Radial deviation of the hand, Mesomelic arm shortening, Tarsal... ORPHA:2756
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Onychogryposis of fingernail, Sparse hair, Palmoplantar keratoderma, Fin... ORPHA:2251
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Congenital alopecia totalis, Fingernail dysplasia, Palmoplantar keratoderma, Palmoplantar hyperke... ORPHA:1010
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Abnormal hair morphology, Subcutaneous nodule, Death in infancy... ORPHA:2028
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Chromosome 15Q13.3 Deletion Syndrome
Hypertelorism, Synophrys, Abnormality of the palpebral fissures, Clinodactyly of the 5th finger, ... OMIM:612001
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Genu recurvatum, Atrophic scars, Pes planus, Thin skin, Inguinal hernia, Calcaneovalgus deformity OMIM:225320
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Micrognathia, Upslanted palpebral fissure, 2-3 toe syndactyly, Synophrys, Thick eyebr... OMIM:617061
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Palmar hype... OMIM:613573
Ectodermal Dysplasia 13, Hair/Tooth Type
Low anterior hairline, Hypertelorism, Sparse eyelashes, Wide nasal bridge, Thin eyebrow, Depresse... OMIM:617392
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Omphalocele ORPHA:660
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Congenital Heart Defects And Ectodermal Dysplasia
Broad thumb, Thin skin, Sparse scalp hair, Syndactyly, Fragile nails OMIM:617364
Isolated Trigonocephaly
Omphalocele, Synophrys ORPHA:3366
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Burn-Mckeown Syndrome
Hypertelorism, Short nose, Bilateral choanal atresia, Wide nasal bridge, Short palpebral fissure,... ORPHA:1200
Distal Trisomy 15Q
Camptodactyly of finger, Blepharophimosis, Micrognathia, Congenital muscular torticollis, Omphalo... ORPHA:1707
20P13 Microdeletion Syndrome
Highly arched eyebrow, Hypertelorism, Wide anterior fontanel, Small nail, Finger syndactyly, Poly... ORPHA:313781
Teebi Hypertelorism Syndrome
Highly arched eyebrow, Broad palm, Upslanted palpebral fissure, Widow's peak, Omphalocele, Preaur... OMIM:145420
Pseudoprogeria Syndrome
Sparse hair, Absent eyelashes, Thin skin, Absent eyebrow, Sparse and thin eyebrow, Alopecia ORPHA:2985
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Epicanthus, Cataract, Congenital bilateral hip dislocation, Talipes equinovarus, Recur... ORPHA:85288
Velo-Facial-Skeletal Syndrome
Abnormal thumb morphology, Hypertelorism, Epicanthus, Large hands, Wide nasal bridge, Prominent f... ORPHA:3424
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Hypertelorism, Short nose, Ptosis, Juvenile cataract, Depressed nasal bridge ORPHA:438178
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger syndactyly, Alopecia, Sh... OMIM:203550
Pelvis-Shoulder Dysplasia
Dislocated radial head, Camptodactyly of finger, Aplasia/Hypoplasia of the scapulae, Mesomelic/rh... ORPHA:2839
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Hypertelorism, Short nose, Rhizomelia, Irregular iliac... ORPHA:168549
Postaxial Tetramelic Oligodactyly
Oligodactyly, Abnormality of the metacarpal bones, Ectrodactyly, Abnormality of finger ORPHA:2730
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Corneal ... ORPHA:1067
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Gillessen-Kaesbach-Nishimura Syndrome
Frontotemporal hypertrichosis, Wide anterior fontanel, Flexion contracture, Epicanthus, Omphaloce... OMIM:263210
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Growth Factors, Combined Defect Of
Thin skin, Pes planus, Lipodystrophy, Flexion contracture, Dermal atrophy, Reduced subcutaneous a... OMIM:233805
Pterygium Colli, Isolated
Low posterior hairline, Short nose OMIM:177990
Nevus Comedonicus Syndrome
Nevus flammeus, Toe syndactyly, Abnormal hair morphology, Finger syndactyly, Preaxial polydactyly... ORPHA:64754
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Trigonocephaly 1
Omphalocele, Synophrys, Preauricular skin tag OMIM:190440
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Toe syndactyly, Postaxial hand polydactyly, Broad thumb, Finger syndac... ORPHA:380
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Epicanthus, Postaxial polydactyly, Short ribs, Hypoplastic ischia, Syndacty... OMIM:617866
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Anteverted nares, Short nose, Epicanthus ORPHA:2015
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Shagreen patch, Large iliac wing, Abnormal thumb morphology, Abnormality of finger, Cone-shaped e... ORPHA:2511
Absence Of Fingerprints-Congenital Milia Syndrome
Thin skin, Camptodactyly of finger, Milia ORPHA:1658
Clouston Syndrome
Small nail, Palmoplantar hyperkeratosis, Onycholysis, Absent pubic hair, Absent axillary hair, Sl... OMIM:129500
Acromelic Frontonasal Dysostosis
Broad nasal tip, Polydactyly, Midline defect of the nose, Preaxial polydactyly, Wide nasal bridge... OMIM:603671
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Brachydactyly, Short 2nd finger OMIM:190680
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Short nose, Corneal opacity, Proptosis, Abnormality of the metacarpal bones, Abnor... ORPHA:2370
Ehlers-Danlos Syndrome, Periodontal Type, 1
Palmoplantar cutis laxa, Atrophic scars, Thin skin, Inguinal hernia, Arachnodactyly OMIM:130080
Tetrasomy X
Hip dysplasia, Hypertelorism, Radioulnar synostosis, Upslanted palpebral fissure, Epicanthus, Cli... ORPHA:9
Ectodermal Dysplasia 6, Hair/Nail Type
Dystrophic toenail, Sparse hair, Alopecia, Thin toenail OMIM:614928
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Hypertelorism, Short nose, Corneal opacity, Proptosis, Limb undergrowth, Coa... OMIM:618961
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Bilateral ... ORPHA:1972
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Cone-shaped epiphysis, Small hand, Delayed epiphyseal ossification, Brachydactyly, Re... OMIM:618618
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Omphalocele OMIM:258320
Cantu Syndrome
Short hallux, Curly eyelashes, Erlenmeyer flask deformity of the femurs, Hypoplastic ischiopubic ... OMIM:239850
Potocki-Shaffer Syndrome
Short nose, Underdeveloped nasal alae, Epicanthus, Wide nasal bridge, Sparse lateral eyebrow, Cut... OMIM:601224
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Camptodactyly, Omphalocele, Mesomelia, Long eyelashes, Clinodactyly, Ventral hernia,... OMIM:618529
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Short ribs, Hypoplastic ischia, Me... OMIM:614524
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Deformed humeral heads, Short nose, Rhizomelia, Short humerus, Short metacarpal, Cox... ORPHA:2831
Thumb Deformity And Alopecia
Alopecia, Short thumb OMIM:188150
Adult Syndrome
Nail pits, Abnormality of the nail, Toe syndactyly, Absent nipple, Finger syndactyly, Thin skin, ... ORPHA:978
Chromosome 16P13.3 Duplication Syndrome
Short nose, Short phalanx of finger, Bulbous nose, Camptodactyly, Short toe, Hip dislocation, Tap... OMIM:613458
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Deafness-Craniofacial Syndrome
Alopecia, Underdeveloped nasal alae, Wide nasal bridge OMIM:125230
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Epidermolysis Bullosa, Lethal Acantholytic
Aplasia cutis congenita, Mitten deformity, Widely spaced toes, Skin erosion, Anonychia, Absent fi... OMIM:609638
Clark-Baraitser Syndrome
Hypertelorism, Short nose, Upslanted palpebral fissure, Narrow palpebral fissure, Epicanthus, San... OMIM:617752
Focal Dermal Hypoplasia
Abnormal dental enamel morphology, Thin skin, Split hand, Omphalocele, Short clavicles, Congenita... ORPHA:2092
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Absent eyebrow, Short nose, Absent eyelashes OMIM:200130
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Hypertelorism, Hypoplasia of the ... OMIM:136760
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the nail, Absent eyelashes, Sparse hair, Palpebral edema, Thin skin, Absent eyebro... OMIM:607823
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Omphaloc... OMIM:304120
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Carious teeth, Palmoplantar keratoderma, Scarring alopecia of scalp, Nail dysp... OMIM:612843
Fetal Valproate Spectrum Disorder
Epicanthus, Omphalocele ORPHA:1906
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Upslanted palpebral fissure, Bowing of the long bones, Omphalocele, Tibial bowing,... ORPHA:3035
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy... OMIM:602032
Mental Retardation, Autosomal Dominant 53
Downslanted palpebral fissures, Hypertelorism, Epicanthus OMIM:617798
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy, Type E brachydactyly OMIM:133690
Fibrochondrogenesis 1
Camptodactyly, Omphalocele, Hypoplastic ischia, Narrow greater sciatic notch, Posterior vertebral... OMIM:228520
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Preaxial hand polydactyly, Postaxial hand polydactyly, Broad th... OMIM:175700
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Dermatosparaxis Ehlers-Danlos Syndrome
Hip dysplasia, Hiatus hernia, Thin skin, Scarring, Epicanthus, Avascular necrosis of the capital ... ORPHA:1901
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Muscular edema, ... ORPHA:83468
Nicolaides-Baraitser Syndrome
Curly eyelashes, Highly arched eyebrow, Broad distal phalanx of finger, Abnormality of finger, Bl... ORPHA:3051
Metaphyseal Acroscyphodysplasia
Short toe, Abnormality of femur morphology, Hypertelorism, Bowing of the long bones, Epicanthus, ... ORPHA:1240
Hydrolethalus Syndrome 2
Preaxial polydactyly, Postaxial polydactyly OMIM:614120
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Omphalocele, Umbilical hernia, Wide anterior fontanel OMIM:275100
Thin skin, Nail dysplasia, Trichodysplasia OMIM:125640
Craniofacial-Deafness-Hand Syndrome
Hypertelorism, Short nose, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers... OMIM:122880
Bardet-Biedl Syndrome 6
Polydactyly, Syndactyly OMIM:605231
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Temple-Baraitser Syndrome
Hypertelorism, Broad thumb, Anonychia, Epicanthus, Thick nasal alae, Short distal phalanx of fing... OMIM:611816
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Bulbous nose, Wide nasal bridge OMIM:612913
Stuve-Wiedemann Syndrome
Abnormal dental enamel morphology, Short phalanx of finger, Thin skin, Elbow flexion contracture,... OMIM:601559
Polydactyly-Myopia Syndrome
Inguinal hernia, Postaxial hand polydactyly, Femoral hernia ORPHA:2917
Bartsocas-Papas Syndrome
Hypoplastic toenails, Toe syndactyly, Short nose, Underdeveloped nasal alae, Aplasia/Hypoplasia o... ORPHA:1234
Carpenter Syndrome 1
Flared iliac wing, Camptodactyly, Omphalocele, Metatarsus adductus, Micrognathia, Shallow acetabu... OMIM:201000
Hypertelorism, Short nose, Epicanthus, Limb undergrowth, Short long bone, Depressed nasal ridge, ... ORPHA:221054
Glass Syndrome
Sparse hair, Micrognathia, Thin skin, Camptodactyly, Nail dysplasia, Inguinal hernia, Downslanted... OMIM:612313
Microphthalmia With Limb Anomalies
Sandal gap, Downslanted palpebral fissures, Depressed nasal bridge, Postaxial hand polydactyly, B... OMIM:206920
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Hypoplastic toenails, Hypertelorism, Sparse eyebrow, Sparse eyelashes, Sparse hair, Epicanthus, D... OMIM:616901
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Epicanthus, Hypertelorism, Depressed nasal bridge OMIM:616911
Pili Torti
Abnormal dental enamel morphology, Abnormal eyebrow morphology, Abnormality of the nail, Brittle ... ORPHA:2889
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Melanocytic nevus, Abnormal eyelash morphology, Sparse scalp hair, Alopecia universalis, Sparse b... ORPHA:1008
Frontofacionasal Dysplasia
Brushfield spots, Hypertelorism, Short nose, Depressed nasal ridge, Blepharophimosis, Aplasia/Hyp... ORPHA:1791
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Blepharophimosis, Thin skin, Inguinal hernia, Elbow flexion contracture, Fine hair OMIM:614438
Postaxial hand polydactyly, Omphalocele, Talipes ORPHA:945
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Palmoplantar keratoderma, Congenital onychodystrophy, Absent e... ORPHA:2890
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetabular roof, ... ORPHA:750
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hypertelorism, Short nose, Sparse hair, Upslanted palpebral fissure, Deeply set eye, Narrow palpe... OMIM:618087
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Hidrotic Ectodermal Dysplasia
Hand polydactyly, Onycholysis, Palmoplantar keratoderma, Finger syndactyly, Sparse hair, Hypercon... ORPHA:189
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Abnormality of the knee, Palmoplantar keratosis with erythema and scale, Thin skin, Abnormality o... ORPHA:158673
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Chung-Jansen Syndrome
Hypertelorism, Short nose, Upslanted palpebral fissure, Epicanthus, Synophrys, Thick eyebrow, Cli... OMIM:617991
Frontonasal Dysplasia 2
Hypertelorism, Sparse hair, Sparse eyelashes, Upslanted palpebral fissure, Wide nasal bridge, Sho... OMIM:613451
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Decreased corneal sensation, Hypertelorism, Abnormal hair morphology, Upslanted palpebral fissure... OMIM:122430
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Non-Distal Trisomy 10Q
Convex nasal ridge, Hypertelorism, Short nose, Blepharophimosis, Downslanted palpebral fissures, ... ORPHA:1695
Gand Syndrome
Hypertelorism, Sparse hair, Blepharophimosis, Deeply set eye, Narrow palpebral fissure, Wide nasa... OMIM:615074
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Cataract, Long eyelashes OMIM:190330
Mental Retardation, Autosomal Dominant 23
Broad distal phalanx of finger, Low anterior hairline, Bulbous nose, Upslanted palpebral fissure,... OMIM:615761
Ulerythema Ophryogenesis
Papule, Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the skin ORPHA:3406
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Thin skin, Lipoatrophy, Skin dimple, Aplasia/Hypoplasia of the eyebrow, Micrognathia ORPHA:261304
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Broad long bones, Hypoplastic ilia, Flexion contracture, Hypoplastic pubic b... ORPHA:1865
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Genu valgum, Hypertelorism, Short nose, Anosmia, Abnormality of the nares, Synophrys, Abnormality... ORPHA:1295
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Hypertelorism, Palmoplantar keratoderma, Wide nasal bridge, Aspiration pneumonia, Death in childh... OMIM:609528
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Underdeveloped nasal alae, Limb dupli... ORPHA:2378
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Prieto X-Linked Mental Retardation Syndrome
Patellar subluxation, Epicanthus, Skin dimple, Radial deviation of finger, Clinodactyly, Inguinal... OMIM:309610
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormality of epiphysis morphology, Rhizomelia, Bowing of the long bones, Omphalocele, Abnormali... ORPHA:93267
Omphalocele, X-Linked
Omphalocele OMIM:310980
Absent hand, Carpal bone aplasia, Absent forearm, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Hip dysplasia, Bifid distal phalanx of toe, Diastasis recti, Limited elbow extension, Sparse eyeb... OMIM:618419
19Q13.11 Microdeletion Syndrome
Toe syndactyly, Congenital hip dislocation, Aplasia cutis congenita, Finger syndactyly, Thin skin... ORPHA:217346
Adams-Oliver Syndrome 3
Short metatarsal, Aplasia cutis congenita, Blepharophimosis, 2-3 toe syndactyly, Short distal pha... OMIM:614814
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Thick hair, Deeply set eye, Mandibular prognathia, Synophrys, Thick eyebrow, Low post... ORPHA:2429
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Hypertelorism, Mandibular prognathia, Epicanthus, Abnormal nasal b... ORPHA:1919
White Forelock With Malformations
Hypertelorism, Poliosis, Aplasia/Hypoplasia of the distal phalanges of the toes, White forelock, ... OMIM:277740
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
3M Syndrome
Rocker bottom foot, Abnormal dental enamel morphology, Scapular winging, Congenital hip dislocati... ORPHA:2616
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short nose, Proptosis, Wide nasal bridge, Short foot, Short metacarpal, Short toe, M... OMIM:614078
Rafiq Syndrome
Hypertelorism, Broad eyebrow, Wide nasal bridge, Downslanted palpebral fissures, Long eyebrows, P... OMIM:614202
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Short phalanx of finger, Ankyloblepharon, Omphalocele, Absent... OMIM:263650
Pierpont Syndrome
Deep palmar crease, Short toe, Hypertelorism, Short nose, Blepharophimosis, Broad palm, Unilatera... OMIM:602342
Edinburgh Malformation Syndrome
Brushfield spots, Low posterior hairline, Short nose, Hirsutism, Choanal atresia, Synophrys, Slen... ORPHA:1895
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Convex nasal ridge, Carious teeth, Ridged nail, Alopecia OMIM:614564
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormality of epiphysis morphology, Rhizomelia, Hemiatrophy, Scarring alopecia of... ORPHA:35173
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Steel Syndrome
Dislocated radial head, Hypertelorism, Wide nasal bridge OMIM:615155
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Mesomelia, Talipes equinovalgus, Hip dislocation, Short tibia, Fibular ap... OMIM:605274
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal dental enamel morphology, Abnormal eyelid morphology, Thin skin, Supernumerary nipple, E... ORPHA:1812
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Convex nasal ridge, Cone-shaped epiphyses of the phalanges of the hand, Proptosis, Cataract, Smal... ORPHA:85172
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hypertelorism, Hirsutism, Epicanthus, Small hand, Short foot, Talipes equinovarus, Hip dislocatio... OMIM:300434
Joubert Syndrome 10
Hirsutism, Epicanthus, Postaxial polydactyly, Wide nasal bridge, Downslanted palpebral fissures OMIM:300804
Adult Syndrome
Nail pits, Toe syndactyly, Absent nipple, Breast hypoplasia, Thin skin, Split hand, Sparse axilla... OMIM:103285
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones, Fibular aplasia, Depre... OMIM:165590
Short Syndrome
Abnormality of the mandible, Abnormal dental enamel morphology, Hypertelorism, Sparse hair, Deepl... ORPHA:3163
Ring Chromosome 6 Syndrome
Hypertelorism, Epicanthus, Short distal phalanx of finger, Wide nasal bridge, Low posterior hairline ORPHA:1448
17P13.3 Microduplication Syndrome
Hypertelorism, Congenital hip dislocation, Short nose, Downslanted palpebral fissures, Clinodacty... ORPHA:217385
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Jackson-Weiss Syndrome
Convex nasal ridge, Hypertelorism, Short metatarsal, Toe syndactyly, Broad hallux phalanx, Broad ... ORPHA:1540
Prolidase Deficiency
Genu valgum, Low anterior hairline, Palmoplantar keratoderma, Micrognathia, Thin skin, Hirsutism,... ORPHA:742
Biemond Syndrome Ii
Preaxial hand polydactyly OMIM:210350
Cardiac-Valvular Ehlers-Danlos Syndrome
Genu valgum, Recurrent shoulder dislocation, Tendon rupture, Absent phalangeal crease, Genu recur... ORPHA:230851
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Aplasia cutis congenita, Absent eyelashes, Sparse hair, Spotty hypopigment... ORPHA:79133
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Bulbous nose, Deeply set eye, Narrow palpebral fissure, Epicanthus, Camptodactyly, Cl... OMIM:613604
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Spotty hypopigmentation, Hyperkeratotic papule, Palmar hyperkeratosis, Nail dysplasia, Hypomelano... ORPHA:79397
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Hypoplastic toenails, Hypertelorism, Short nose, Low posterior hairline, Abnormali... ORPHA:2701
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Hypertelorism, Short nose, Anteverted nares, Upslanted palpebral fissure, ... OMIM:615485
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bones, Short ... ORPHA:3258
Velofacioskeletal Syndrome
Hypertelorism, Broad palm, Epicanthus, Wide nasal bridge, Short thumb, Short foot, Prominent fing... OMIM:600736
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Thin skin, Diaphyseal cortical sclerosis, Stenosis of the medullary ca... OMIM:112250
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Simpson-Golabi-Behmel Syndrome, Type 2
Hypertelorism, Short nose, Congenital hip dislocation, Recurrent upper respiratory tract infectio... OMIM:300209
Biemond Syndrome Type 2
Preaxial polydactyly ORPHA:141333
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Omphalocele, Congenital hip dislocation OMIM:614450
Alopecia-Intellectual Disability Syndrome
Split hand, Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Bra... ORPHA:2850
Pfeiffer Syndrome
Humeroradial synostosis, Hypertelorism, Short nose, Choanal stenosis, Broad thumb, Finger syndact... OMIM:101600
Epiphyseal stippling, Short metatarsal, Mandibular prognathia, Abnormality of the metacarpal bone... ORPHA:950
Whistling Face Syndrome, Recessive Form
Hypertelorism, Blepharophimosis, Underdeveloped nasal alae, Micrognathia, Camptodactyly, Epicanth... OMIM:277720
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypertelorism, Short nose, Polydactyly, Epicanthus, Hypoplastic ischia, Depressed nasal bridge OMIM:616910
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Dermal atrophy, Metaphyseal dysplasia, Anetoderma OMIM:250450
Ectodermal Dysplasia 7, Hair/Nail Type
Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy... OMIM:614929
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Short thumb OMIM:274205
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Low anterior hairline, Short nose, Bulbous nose, Deeply set eye, Narrow pa... OMIM:618828
Fibromatosis, Gingival, With Distinctive Facies
Hypertelorism, Underdeveloped nasal alae, Synophrys, Persistence of primary teeth, Thick eyebrow,... OMIM:228560
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Omphalocele, Short ribs, Synda... OMIM:617895
3Mc Syndrome 1
Conjunctival telangiectasia, Highly arched eyebrow, Radioulnar synostosis, Blepharophimosis, Wide... OMIM:257920
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Camptodactyly, Milia, Short tibia, Telecanthus OMIM:258865
Nasopalpebral Lipoma-Coloboma Syndrome
Hypertelorism, Hypoplasia of the maxilla, Upper eyelid coloboma, Lower eyelid coloboma, Conjuncti... OMIM:167730
Intellectual Disability, Wolff Type
Camptodactyly of finger, Abnormality of the nail, Broad thumb, Hypertelorism, Bulbous nose, Low p... ORPHA:3080
Ehlers-Danlos Syndrome, Classic-Like, 2
Squared iliac bones, Low posterior hairline, Cellulitis, Atrophic scars, Pes planus, Thin eyebrow... OMIM:618000
Keipert Syndrome
Short hallux, Broad distal phalanx of finger, Hypertelorism, Broad thumb, Hypoplasia of the maxil... ORPHA:2662
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Epicanthus, Postaxial polydactyly, Clinodactyly, ... OMIM:258860
Distal Monosomy 1Q
Epicanthus, Micrognathia, Hypertelorism, Depressed nasal bridge ORPHA:36367
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Blepharophimosis, Micrognathia, Deeply set eye, Camptodactyly, Hirsutism, Sec... OMIM:214150
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Patellar subluxation, Finger clinodactyly, Epicanthus, Skin dimple, Inguinal hernia, Ptosis, Bila... ORPHA:2958
Frontofacionasal Dysplasia
Eyelid coloboma, Hypertelorism, Short nose, Underdeveloped nasal alae, Blepharophimosis, Iris col... OMIM:229400
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Cataract, Sparse lateral eyebrow, Brittle hair, Abno... ORPHA:170
Camptodactyly Syndrome, Guadalajara Type 1
Highly arched eyebrow, Cubitus valgus, Scapular winging, Camptodactyly of finger, Short nose, Ble... ORPHA:1327
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Epicanthus, Limb undergrow... ORPHA:177
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Hypertelorism, Bulbous nose, Mandibular prognathia, Epicanthus, Wide nasal bri... OMIM:600991
Charlie M Syndrome
Hypertelorism, Finger syndactyly, Micrognathia, Split hand, Wide nasal bridge, Abnormality of the... ORPHA:1406
Rhizomelic Chondrodysplasia Punctata, Type 1
Developmental cataract, Epiphyseal stippling, Rhizomelia, Upslanted palpebral fissure, Flared met... OMIM:215100
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Highly arched eyebrow, Preaxial polydactyly, Postaxial polydactyly, Bilatera... OMIM:618142
Silver-Russell Syndrome 2
Micrognathia, Clinodactyly of the 5th finger, Thin skin, 2-3 toe syndactyly OMIM:618905
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Absent toenail, Skin erosion, Palmoplantar blistering, Abnormal fingernail morphology, Atrophic s... ORPHA:89838
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Donnai-Barrow Syndrome
Wide anterior fontanel, Widow's peak, Omphalocele, Umbilical hernia, Congenital diaphragmatic her... ORPHA:2143
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Ridged nail, Congenital alopecia totalis ORPHA:169095
Chromosome 3Pter-P25 Deletion Syndrome
Highly arched eyebrow, Hypertelorism, Anteverted nares, Blepharophimosis, Upslanted palpebral fis... OMIM:613792
Short Syndrome
Enlarged epiphyses, Thin skin, Lipoatrophy, Lipodystrophy, Radial deviation of finger, Clinodacty... OMIM:269880
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Short nose, Elbow dislocation, Elbow ankylosis, Corneal ... ORPHA:2557
Chromosome 3Q29 Duplication Syndrome
Short nose, Bulbous nose, Blepharophimosis, Wide nasal bridge, Short palpebral fissure, Downslant... OMIM:611936
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Thin skin, Sparse body hair, Sparse hair, Abnormal fingernail morphology ORPHA:1810
C Syndrome
Dislocated radial head, Postaxial hand polydactyly, Toe syndactyly, Upslanted palpebral fissure, ... OMIM:211750
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Delayed ossification of carpal bones, Hypo... ORPHA:93346
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Robinow Syndrome, Autosomal Dominant 2
Hypertelorism, Short nose, Broad thumb, Micrognathia, Upslanted palpebral fissure, Mesomelia, Pro... OMIM:616331
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Stillbirth, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypo... OMIM:119800
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormality of the forearm, Scarring, Atrophic scars, Abnormality of the elbow, Subcutaneous nodu... ORPHA:89843
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Dental enamel pits, Aplasia cutis congenita, Mitten deformity, Atypical scarri... ORPHA:251393
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Hypertelorism, Short nose, Wide anterior fontanel, Hemiatr... ORPHA:163649
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Nasodigitoacoustic syndrome
Broad distal phalanx of finger, Short 3rd metacarpal, Abnormality of the nail, Hypertelorism, Sho... OMIM:255980
Kennerknecht Syndrome
Toe syndactyly, Long eyelashes, Omphalocele, Acetabular dysplasia, Toe clinodactyly OMIM:600908
Squared iliac bones, Broad thumb, Abnormality of epiphysis morphology, Hypoplastic pubic bone, Hy... ORPHA:2746
Oliver-Mcfarlane Syndrome
Central heterochromia, Sparse hair, Long eyelashes, Alopecia, Long eyebrows OMIM:275400
Mosaic Trisomy 1
Omphalocele, Long toe, Congenital diaphragmatic hernia, Downslanted palpebral fissures, Complete ... ORPHA:1692
Camptodactyly of finger, Wide anterior fontanel, Hypoplastic scapulae, Omphalocele, Short ribs, A... ORPHA:2021
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Short proximal phalanx of thumb, Short middle phalanx of finger, Short proxima... OMIM:251190
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse hair, Epicanthus, Hypopigmented skin patches, Sparse lateral eyebro... ORPHA:1807
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Polydactyly, Depressed nasal ridge, Talipes equinovarus OMIM:613885
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Short femur, Omphalocele OMIM:601357
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Depressed nasal tip, Hypertelorism, Abnormal h... OMIM:300244
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Blepharophimosis, Deeply set eye, Poliosis, Patchy alopecia, Short man... OMIM:141300
Kagami-Ogata Syndrome
Diastasis recti, Blepharophimosis, Flexion contracture, Omphalocele, Limb undergrowth, Inguinal h... OMIM:608149
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Fetal Encasement Syndrome
Mandibular aplasia, Aplasia of the sweat glands, Upper limb undergrowth, Thin skin, Omphalocele, ... OMIM:613630
Cerebrooculofacioskeletal Syndrome 2
Convex nasal ridge, Developmental cataract, Rocker bottom foot, Camptodactyly of finger, Sparse h... OMIM:610756
Kosaki Overgrowth Syndrome
Downslanted palpebral fissures, Thin skin, Long foot, Ptosis OMIM:616592
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Hypertelorism, Underdeveloped nasal alae, Synophrys, Thick eyebrow, Do... ORPHA:2025
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Underdeveloped nasal alae, Fibular duplication, Short foot, Synda... OMIM:135750
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Small nail, Sparse hair, Thin skin, Ptosis, Syndactyly, Onychog... OMIM:129400
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation 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
Chromosome 6Q11-Q14 Deletion Syndrome
Hypertelorism, Short nose, Upslanted palpebral fissure, Epicanthus, Broad nasal tip, Hypotelorism... OMIM:613544
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypertelorism, Abnormal thumb morphology, Finger syndactyly, Epicanthus, Wide nasal bridge, Ptosi... ORPHA:1825
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Short nose, Hypoplasia of teeth, Sparse hair, Woolly hair, Epicanthus, Nail dysplasia... OMIM:234050
Widow'S Peak Syndrome
Widow's peak, Narrow iliac wing, Inguinal hernia, Ptosis, Recurrent patellar dislocation, High il... OMIM:314570
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypertelorism, Short nose, Long eyelashes, Proptosis, Wide nasal bridge, Ulnar deviation of the w... OMIM:618577
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Elbow dislocation, Death in infancy, Bilateral single transverse ... ORPHA:1106
Tetramelic Monodactyly
Split hand, Hand monodactyly, Foot monodactyly, Split foot OMIM:187510
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Hypertelorism, Short nose, Synophrys, Wide nasal bridge, Limited elbow ex... ORPHA:401935
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Melanocytic nevus, Flexion contracture, Ulnar deviation of the hand, Ulnar deviation of the hand ... OMIM:612079
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Hypertelorism, Toe syndactyly, Central Y-shaped metacarpal, Epicanthus... OMIM:277170
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypertelorism, Hirsutism, Thick nasal alae, Synophrys, Hypoplasia of the ulna, Clinodactyly, Down... ORPHA:357175
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short phalanx of finger, Short nose, Red hair, Cone-shaped epiphysis, Fair hair... OMIM:614613
Orofaciodigital Syndrome Xv
Broad hallux, Anteverted nares, Postaxial polydactyly, Wide nasal bridge OMIM:617127
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Short nose, Proptosis, Depressed nasal ridge, Retrognathia, Micrognathia, Ant... ORPHA:1832
Monosomy 5P
Finger syndactyly, Microretrognathia, Epicanthus, Preauricular skin tag, Small hand, Inguinal her... ORPHA:281
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Sparse hair, Thin skin, Umbilical hernia, Inguinal hernia, Talipes eq... OMIM:219150
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Distal Trisomy 18Q
Camptodactyly of finger, Carious teeth, Short nose, Anteverted nares, Micrognathia, Choanal atres... ORPHA:1716
Porokeratosis Plantaris Palmaris Et Disseminata
Aplasia/Hypoplasia of the skin, Palmoplantar keratoderma ORPHA:737
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Low anterior hairline, Hypertelorism, Short nose, Blepharophimosis, Sparse... OMIM:608156
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short long bone, Pulmonary hypoplasia, Syndactyly, A... OMIM:615503
Char Syndrome
Highly arched eyebrow, Hypertelorism, Thick eyebrow, Ptosis, Broad nasal tip, Clinodactyly of the... OMIM:169100
Oculocerebrocutaneous Syndrome
Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Talipes, Short distal phalanx of... ORPHA:1647
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, Hypertelorism, Bulbous nose, Mandibular prognathia, Long eyelashes, Synoph... OMIM:617773
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of the nail, Cellulitis, Thin skin, Skeletal muscle hypertrophy, Xanthomatosis, Lipod... ORPHA:2348
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Talipes equinovarus, Preaxial hand polydactyly, Omphalocele OMIM:601389
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
9q subtelomeric deletion syndrome
Anteverted nares, Short nose, Synophrys DECIPHER:52
Wiedemann-Steiner Syndrome
Depressed nasal tip, Hypertelorism, Short phalanx of finger, Blepharophimosis, Short middle phala... OMIM:605130
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90153
Erythrokeratodermia Variabilis
Abnormality of the nail, Patchy palmoplantar hyperkeratosis, Abnormal hair morphology, Corneal op... ORPHA:317
Bardet-Biedl Syndrome 19
Polydactyly, Hyposmia OMIM:615996
Osteogenesis Imperfecta, Type Ii
Thin skin, Broad long bones, Tibial bowing, Crumpled long bones, Abnormality of pelvic girdle bon... OMIM:166210
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Short nose, Anosmia, Short distal phalanx of finger, Short nasal septum, De... OMIM:302950
Nasopalpebral Lipoma-Coloboma Syndrome
Lacrimal punctal atresia, Depressed nasal tip, Hypertelorism, Sparse eyebrow, Recurrent upper res... ORPHA:2399
Renpenning Syndrome
Abnormal thumb morphology, Upslanted palpebral fissure, Mandibular prognathia, Iris coloboma, Epi... ORPHA:3242
Delayed eruption of teeth, Short nose, Square pelvis bone, Micromelia, Bowing of the long bones, ... ORPHA:166272
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Developmental cataract, Nail dysplasia, Alopecia totalis, Nail dystrophy... OMIM:212360
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Hypertelorism, Abnormality iris morphology, Toe syndactyly, Hand clenchi... ORPHA:1617
Familial Cervical Artery Dissection
Thin skin, Facial palsy, Abnormality of connective tissue, Striae distensae ORPHA:36382
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Upslanted palpebral fissure, Preaxial foot pol... ORPHA:1988
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Dermal atrophy, Hyperconvex fingernails, Ptosis, Hypoplastic f... ORPHA:257
Eiken Syndrome
Cubitus valgus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Broad palm, Short f... ORPHA:79106
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly OMIM:601420
Sclerosteosis 2
Hypertelorism, Short finger, Mandibular prognathia, Nail dysplasia, Cutaneous finger syndactyly OMIM:614305
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Abnormality iris morphology, Underdeveloped nas... ORPHA:2710
Mental Retardation With Language Impairment And With Or Without Autistic Features
Hypertelorism, Short nose, Broad nasal tip, Downslanted palpebral fissures, Retrognathia OMIM:613670
Rothmund-Thomson Syndrome, Type 2
Sparse eyebrow, Congenital hip dislocation, Hypoplasia of teeth, Premature graying of hair, Mandi... OMIM:268400
Trisomy 4P
Radial club hand, Camptodactyly of finger, Preaxial hand polydactyly, Hypertelorism, Carious teet... ORPHA:1738
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteolysis involving bones of the upper limbs, Subcutaneous nodule, Localized skin lesion, Hirsut... ORPHA:371428
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Hypertelorism, Abnormal eyelid morphology, Abnormal hair quantity, Finger syndacty... ORPHA:1997
Desbuquois Dysplasia 1
Short metatarsal, Phalangeal dislocation, Broad first metatarsal, Sandal gap, Flat acetabular roo... OMIM:251450
Mental Retardation, Autosomal Dominant 20
Hypertelorism, Short nose, Upslanted palpebral fissure, Anteverted nares, Depressed nasal bridge OMIM:613443
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Upslanted palpebral fissure, Epicanthus, Bilateral single transverse palmar creases, Wide nasal b... ORPHA:50812
Fibrodysplasia Ossificans Progressiva
Short hallux, Subcutaneous nodule, Alopecia, Abnormality of the first metatarsal bone, Aplasia/Hy... ORPHA:337
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
Manitoba Oculotrichoanal Syndrome
Abnormal hair morphology, Omphalocele, Nasolacrimal duct obstruction, Eyelid coloboma OMIM:248450
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Partial duplication of the proximal phalanx of the 3rd finger, Partial duplica... ORPHA:363417
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth... OMIM:617102
Cataract, Aberrant Oral Frenula, And Growth Retardation
Short nose, Blepharophimosis, Upslanted palpebral fissure, Posterior polar cataract, Epicanthus, ... OMIM:115645
Melnick-Needles Syndrome
Bowing of the long bones, Omphalocele, Short distal phalanx of finger, Osteolytic defects of the ... ORPHA:2484
Combined Oxidative Phosphorylation Deficiency 25
Hypertelorism, Short nose, Wide nasal bridge, Anteverted nares, Depressed nasal bridge OMIM:616430
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Macroglossia, Flexion contracture of finger, Overlapping toe, Camptodactyly, Fle... ORPHA:254528
Infantile Spasms-Broad Thumbs Syndrome
Convex nasal ridge, Hypertelorism, Broad thumb, Cataract, Downslanted palpebral fissures, Microgn... ORPHA:3173
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Aplasia cutis congenita, Palmoplantar keratoderma, Anonychia, Atrophic scars, ... ORPHA:79402
Coffin-Siris Syndrome 9
Abnormality of the columella, Highly arched eyebrow, Small nail, Short nose, Underdeveloped nasal... OMIM:615866
Keipert Syndrome
Broad distal phalanx of finger, Absent toenail, Hypertelorism, Broad thumb, Clinodactyly, Broad h... OMIM:301026
Rudiger Syndrome
Flexion contracture, Death in infancy, Inguinal hernia, Hypoplastic fingernail, Short digit, Sing... OMIM:268650
Periventricular Nodular Heterotopia
Thin skin, Shoulder dislocation, Patellar dislocation, Hernia ORPHA:98892
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Congenital hip dislocat... ORPHA:1458
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypertelorism, Short phalanx of finger, Premature graying of hair, Deeply set eye, Abnormality of... OMIM:300845
Johnson Neuroectodermal Syndrome
Carious teeth, Preaxial hand polydactyly, Hand polydactyly, Bulbous nose, Absent eyelashes, Spars... ORPHA:2316
Candidiasis, Familial, 1
Alopecia OMIM:114580
Gómez-López-Hernández Syndrome
Hypertelorism, Corneal opacity, Alopecia of scalp, Toenail dysplasia, Anteverted nares, Telecanthus ORPHA:1532
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low posterior hairline, Wide anterior fontanel, Preaxial polydactyly, Postaxial polydactyly, Hypo... OMIM:617925
Crandall Syndrome
Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Pili torti ORPHA:202
Trisomy 12P
Hypertelorism, Short nose, Micrognathia, Supernumerary nipple, Aplasia/Hypoplasia of the iris, Ep... ORPHA:1699
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Almond-shaped palpebral fissure, Hypertelorism, Underdeveloped nasal alae, Choanal ... ORPHA:521308
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Mandibular prognath... ORPHA:439822
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Elbow dislocation, Thin skin, Camptodactyly, Micrognathia, Genu valgum, Ble... OMIM:224690
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Mental Retardation, Autosomal Recessive 35
Hypertelorism, Hirsutism, Thick nasal alae, Synophrys, Hypoplasia of the ulna, Clinodactyly, Down... OMIM:615162
Non-Distal Trisomy 13Q
Postaxial hand polydactyly, Hypoplastic toenails, Short nose, Micrognathia, Abnormal eyelash morp... ORPHA:1702
L-Ferritin Deficiency
Alopecia OMIM:615604
3Mc Syndrome 3
Highly arched eyebrow, Diastasis recti, Radioulnar synostosis, Blepharophimosis, Preaxial polydac... OMIM:248340
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Hypertelorism, Elbow dislocation, Synostosis of ca... ORPHA:90650
Lenz-Majewski Hyperostotic Dwarfism
Aplasia/Hypoplasia of the middle phalanges of the hand, Humeroradial synostosis, Lacrimal duct st... OMIM:151050
Squared iliac bones, Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ischia,... OMIM:258480
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Minimal subcutaneous fat, Talipes, Micrognathia, Hypoplastic pubic bone, Hypoplastic ischia, Slen... OMIM:210730
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypertelorism, Bulbous nose, Short nose, Epicanthus, Cataract, Downslanted palpebral fissures, De... OMIM:614105
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Short nose, Long eyelashes, Astigmatism, Micrognathia, Depressed nasal bridge OMIM:617802
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Limb muscle weakness, Genu valgum, Limited elbow extension, Rhizomelia, Sh... ORPHA:239
Familial Scaphocephaly Syndrome, Mcgillivray Type
Toe syndactyly, Hypertelorism, Upslanted palpebral fissure, Mandibular prognathia, Broad hallux p... ORPHA:168624
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Thin skin, Skeletal muscle hypertrophy, Xanthomatosis, Lipoatrophy, ... ORPHA:79083
Flynn-Aird Syndrome
Cataract, Carious teeth, Alopecia of scalp, Alopecia OMIM:136300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Thin skin, Increased facial adipose tissue, Proximal upper limb muscle... ORPHA:280365