banner
Genes Phenotypes Help, News, Blog

Gene: Alx4 MGI:108359

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
aristaless-like homeobox 4
Synonyms:
Aristaless-like 4

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Frontonasal Dysplasia 2
Wide nasal bridge, Depressed nasal ridge, Sparse eyebrow, Bifid nasal tip, Depressed nasal bridge... OMIM:613451
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Depressed nasal bridge, Alopecia, Underdeveloped nasal alae, Fine hair, Anteverted nares, Telecan... ORPHA:228390
Parietal Foramina 2
Depressed nasal bridge, Wide nasal ridge, Hypertelorism OMIM:609597
Potocki-Shaffer Syndrome
Broad nasal tip, Underdeveloped nasal alae, Depressed nasal tip, Prominent nasal bridge, Microgna... ORPHA:52022
Enlarged Parietal Foramina
Aplasia cutis congenita of scalp, Broad thumb, Short clavicles ORPHA:60015
Non-Syndromic Sagittal Craniosynostosis
ORPHA:35093
Craniosynostosis 5, Susceptibility To
OMIM:615529

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
22q11 duplication syndrome
Telecanthus DECIPHER:32
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly OMIM:618498
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Gastroschisis
Abdominal wall defect, Gastroschisis OMIM:230750
Oculomotor-Levator Synkinesis
Eyelid retraction, Ptosis, Abnormal eyelid morphology OMIM:151610
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Downslanted palpebral fissures, Prominent nose, Epiphyseal stippling, Micrognathia, Dea... OMIM:614882
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Arthrochalasia Ehlers-Danlos Syndrome
Abnormality of subcutaneous fat tissue, Avascular necrosis of the capital femoral epiphysis, Micr... ORPHA:1899
Fetal Encasement Syndrome
Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth, Omphalocele, Thi... OMIM:613630
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Congenital diaphr... ORPHA:2141
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Low posterior hairline, Cubitus valgus, Short foot, S... OMIM:300577
Orofaciodigital Syndrome Xviii
Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum,... OMIM:617927
X-Linked Intellectual Disability, Stoll Type
Hypoplastic nasal bridge, Broad nasal tip, Anteverted nares, Hypertelorism, Clinodactyly of the 5... ORPHA:85326
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Thick eyebrow, Micrognathia, Generalized hirsutism,... ORPHA:217340
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h... ORPHA:3329
Ectrodactyly-Polydactyly
Split hand, Split foot, Postaxial hand polydactyly OMIM:225290
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Microcephaly 4, Primary, Autosomal Recessive
Micrognathia, Thick eyebrow, Hypertelorism, Low hanging columella, Synophrys OMIM:604321
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Delayed pubic bone ossification, I... OMIM:184250
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Broad femoral neck, Short femoral neck, Downslanted palpebral fissures, Abnormal metaphysis morph... ORPHA:157965
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger OMIM:259270
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Short 2nd toe, Short thumb, Postaxial hand polydactyly OMIM:176305
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Brachydactyly-Preaxial Hallux Varus Syndrome
Wide nasal bridge, Broad thumb, Preaxial hand polydactyly, Radial club hand, Abnormal fingernail ... ORPHA:1278
Membranous Cranial Ossification, Delayed
Depressed nasal bridge, Downslanted palpebral fissures, Hypertelorism OMIM:155980
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Syndactyly, Y-shaped meta... OMIM:175700
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Familial Intestinal Malrotation
Long palpebral fissure, Depressed nasal bridge, Anteverted nares, Hypertelorism ORPHA:508410
Jawad Syndrome
Prominent nose, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal ... OMIM:251255
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol... ORPHA:2722
Rhiny
Anteverted nares, Short nose OMIM:180360
Pseudodiastrophic Dysplasia
Rhizomelia, Elbow dislocation, Talipes equinovarus, Phalangeal dislocation, Omphalocele ORPHA:85174
Kondoh Syndrome
Interphalangeal joint contracture of finger, Preaxial hand polydactyly, Thick eyebrow, Pear-shape... OMIM:606242
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Wide nasal bridge, High anterior hairline, Broad nasal tip, Thick nasal alae, Thin eyebrow, Narro... OMIM:618147
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Preaxial foot polydactyly OMIM:235750
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Hypopigmentation of hair, Short nose ORPHA:1355
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Supernumerary nipple, Abnormal foot morphology, Mesomelic leg shorten... OMIM:605274
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Aplasia/Hypoplasia of the skin, Dermal atrophy, Type E brachydactyly, Macule ORPHA:1962
Parc Syndrome
Absent eyelashes, Alopecia, Microretrognathia, Absent eyebrow OMIM:600331
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Ulnar deviation of finger, Hypoplasia of the maxil... ORPHA:1529
Ring Chromosome 8 Syndrome
Low posterior hairline, Anteverted nares, Deviation of finger, Short nose ORPHA:1450
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Highly arched eyebrow, Depressed nasal bridge, Toe syndactyly, Sparse lateral e... ORPHA:261120
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... OMIM:609616
Familial Articular Hypermobility Syndrome
Congenital hip dislocation, Abnormal femur morphology, Inguinal hernia, Shoulder dislocation, Abn... ORPHA:2295
Congenital Absence Of Upper Arm And Forearm With Hand Present
Atypical scarring of skin, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stil... ORPHA:294975
Hidrotic Ectodermal Dysplasia
Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse... ORPHA:189
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E... OMIM:201250
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Long eyelashes, Narrow nasal bridge, Thick eyebrow, Generalized hirsutism, Abn... ORPHA:1514
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Slender finger, Short palpebral fissure, Broad nasal tip, Small hand, Sandal gap, Long nasal brid... OMIM:617755
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Telecanthus, Cleft ala nasi, Convex nasal ridge, Hy... ORPHA:2007
Weiss-Kruszka Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Single transverse palmar crease, Epicanthu... ORPHA:502430
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Dermal atrophy, Alope... OMIM:617294
Acrogeria
Small hand, Skin ulcer, Fine hair, Micrognathia, Aplasia/Hypoplasia of the skin, Short foot, Lipo... ORPHA:2500
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
X-Linked Intellectual Disability, Siderius Type
Broad nasal tip, Preaxial hand polydactyly, Low posterior hairline, Large hands, Synophrys ORPHA:85287
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Aplasia/Hypoplasia of the nails, Short thumb, Absent toenail, Absent fifth fingernail, Hypoplasti... ORPHA:79499
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Bullous Dystrophy, Hereditary Macular Type
Short finger, Alopecia totalis, Death in childhood, Abnormality of the nail, Tapered finger OMIM:302000
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal epiphysis morphology, Aplasia/Hyp... ORPHA:1509
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Epicanthus, Omphalocele, Sacral dimple ORPHA:531
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Melanocytic nevus, Trichodysplasia, Pt... ORPHA:1660
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Short columella, Short nose OMIM:155050
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo... OMIM:608728
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
X-Linked Ehlers-Danlos Syndrome
Hernia, Umbilical hernia, Inguinal hernia, Thin skin ORPHA:75497
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ... OMIM:201170
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Pyknoachondrogenesis
Webbed neck, Short iliac bones, Micromelia, Short ribs, Aplastic pubic bone, Muscular edema, Shor... ORPHA:3003
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Proptosis, Delayed eruption of teeth, Thick eyebrow, Upp... OMIM:619736
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Wide nasal bridge, Downslanted palpebral fissures, Micrognathia, Adducted thumb, Hypertelorism, S... ORPHA:3207
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Webbed neck, Joint contracture of the hand, Cigarette-paper scars, Broad femoral neck, Flared met... OMIM:612350
Hypomelanosis Of Ito
Cataract, Alopecia, Clinodactyly, Radial deviation of finger, Epicanthus, Hand polydactyly, Hyper... OMIM:300337
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Bulbous nose, Antev... ORPHA:969
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Clinodactyly, Depressed nasal tip, Epicanthus, Brachydactyly, Osteolysis involving bone... ORPHA:88630
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... OMIM:611263
Orofaciodigital Syndrome Viii
Short tibia, Milia, Telecanthus, Polydactyly, Syndactyly OMIM:300484
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse eyebrow, Atypical scarring of skin, Skeletal muscle atrophy, Atrophic scars, Telecanthus, ... ORPHA:75496
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Hypopigmente... ORPHA:2251
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d... ORPHA:93323
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Alopecia, Coarse hair, Small nail, Cutaneous finger syndactyly, Hyp... OMIM:613573
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Genu recurvatum, Atrophic scars, Inguinal hernia, Pes planus, Calcaneovalgus deformity, Thin skin OMIM:225320
20P13 Microdeletion Syndrome
Highly arched eyebrow, Microcornea, Small nail, Finger syndactyly, Downslanted palpebral fissures... ORPHA:313781
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Clinodactyly, Deeply set eye, 2-3 toe syndactyly, Polydactyly, Postaxial ... OMIM:615984
Non-Syndromic Metopic Craniosynostosis
Omphalocele, Synophrys ORPHA:3366
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Amelia, Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphrag... OMIM:601163
Chromosome 15Q13.3 Deletion Syndrome
Brachydactyly, Hypertelorism, Clinodactyly of the 5th finger, Abnormality of the palpebral fissur... OMIM:612001
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, High anterior hairline, Broad thumb, Deep plantar creases, Fragile ... OMIM:617364
Omphalocele
Omphalocele ORPHA:660
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Trigonocephaly 2
Wide nasal bridge, Depressed nasal bridge, Downslanted palpebral fissures, Hypertelorism OMIM:614485
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Highly arched eyebrow, Juvenile cataract, Ptosis, Hypertelorism, Short nose ORPHA:438178
Distal Duplication 15Q
Camptodactyly of finger, Downslanted palpebral fissures, Micrognathia, Congenital muscular tortic... ORPHA:1707
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Skin ulcer, Abnormal diaphysis morphology, Abnormal hair morphology, Dea... ORPHA:2028
Burn-Mckeown Syndrome
Wide nasal bridge, Short palpebral fissure, Bilateral choanal atresia, Prominent nasal bridge, Hy... ORPHA:1200
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Vola... OMIM:619217
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia, Hip dislocation, Carious teeth, Generalized hypoplasia of dental enamel, Telecanthus, P... OMIM:203550
Orofaciodigital Syndrome Type 10
Aplasia/Hypoplasia of the nails, Polysyndactyly of hallux, Radial deviation of the hand, Short ti... ORPHA:2756
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Gillessen-Kaesbach-Nishimura Syndrome
Frontotemporal hypertrichosis, Telecanthus, Micrognathia, Congenital diaphragmatic hernia, Epican... OMIM:263210
Velo-Facial-Skeletal Syndrome
Wide nasal bridge, Prominent fingertip pads, Telecanthus, Abnormal thumb morphology, Epicanthus, ... ORPHA:3424
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Short palpebral fissure, Camptodactyly of finger, Facia... ORPHA:2839
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair, Thin skin ORPHA:2985
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Pr... ORPHA:380
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
X-Linked Intellectual Disability, Stocco Dos Santos Type
Depressed nasal bridge, Cataract, Hirsutism, Talipes equinovarus, Epicanthus, Congenital bilatera... ORPHA:85288
Cousin Syndrome
Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Short palpebral fissure, Clubbing of toes, Broad distal phalanx ... ORPHA:3051
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Hypopigmentation of ... ORPHA:1067
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Comedo, Abnormal hair morphology, Preaxial polydactyly, Abnorm... ORPHA:64754
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Micromelia, Broad long bones, Clubbing of fingers, Pterygium, Micrognathia, Hir... ORPHA:1865
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail d... OMIM:129500
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Skin erosion, Sandal gap, Widely spaced toes, Alopecia totalis, Neonatal de... OMIM:609638
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Proptosis, Abnormal metacarpal morphology, Brachydactyly,... ORPHA:2370
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Cone-shaped epiphysis, Abnormality of the wrist, Bilateral single transverse palmar creases, Abno... ORPHA:2511
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Epicanthus, Anteverted nares, Micrognathia, Short nose ORPHA:2015
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Camptodactyly of finger, Thin skin ORPHA:1658
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot OMIM:190680
Intellectual Developmental Disorder, Autosomal Recessive 45
Wide nasal bridge, Highly arched eyebrow, Retrognathia, Downslanted palpebral fissures, Bulbous n... OMIM:615979
Potocki-Shaffer Syndrome
Wide nasal bridge, Sparse lateral eyebrow, Underdeveloped nasal alae, Downslanted palpebral fissu... OMIM:601224
Focal Dermal Hypoplasia
Toe syndactyly, Finger syndactyly, Dermal atrophy, Congenital diaphragmatic hernia, Hernia, Subcu... ORPHA:2092
Dermatosparaxis Ehlers-Danlos Syndrome
Abnormality of subcutaneous fat tissue, Avascular necrosis of the capital femoral epiphysis, Micr... ORPHA:1901
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Upslanted palpebral fissure, Tibial bowing, Lower limb undergrowth, ... ORPHA:3035
Cantu Syndrome
Erlenmeyer flask deformity of the femurs, Congenital hypertrophy of left ventricle, Broad hallux,... OMIM:239850
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Omphalocele OMIM:258320
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor... ORPHA:2831
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Short ribs, Hypoplastic pubic bone, Metaphys... OMIM:614524
Tetrasomy X
Upslanted palpebral fissure, Epicanthus, Radioulnar synostosis, Brachydactyly, Hypertelorism, Cli... ORPHA:9
Thumb Deformity And Alopecia
Alopecia, Short thumb OMIM:188150
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly ORPHA:2730
Frontofacionasal Dysplasia
Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Microcornea, Cat... ORPHA:1791
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Micrognath... OMIM:201000
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Adams-Oliver Syndrome 3
Short distal phalanx of finger, Short palpebral fissure, Short 5th toe, Hypoplastic fifth fingern... OMIM:614814
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Skin ulcer, Fine hair, Toe syndactyly, Finger syndact... ORPHA:978
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Proptosis, Coarse metaphyseal trabecularization, Anteverted nares, Death ... OMIM:618961
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Alopecia, Sparse eyebrow, Keratitis, Palmoplantar keratoderma, Carious teeth, Nail dyst... OMIM:612843
Acrocephalopolydactyly
Depressed nasal ridge, Epicanthus, Limb undergrowth, Brachydactyly, Short long bone, Hyperteloris... ORPHA:221054
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Absent eyelashes, Absent eyebrow, Convex nasal ridge, Short nose OMIM:200130
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Ectopia lentis, Delayed eruption of teeth, Abnormal fingernail morph... ORPHA:2325
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Short palpebral fissure, Clinodactyly, Downslanted palpebral fissures, Bulbous... OMIM:613604
Trigonocephaly 1
Preauricular skin tag, Upslanted palpebral fissure, Epicanthus, Omphalocele, Synophrys OMIM:190440
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Bulbous nose, Wide nasal bridge OMIM:612913
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila... ORPHA:1972
Pterygium Colli, Isolated
Low posterior hairline, Short nose OMIM:177990
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc... ORPHA:1008
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb shortening, Microme... OMIM:151210
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dystrophic toenail, Dermal atrophy, Milia, Erythematous plaque, Abnormality of the lower limb, Dy... ORPHA:158673
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Gand Syndrome
Wide nasal bridge, Broad nasal tip, Deeply set eye, Long toe, Blepharophimosis, Narrow palpebral ... OMIM:615074
Fibrodysplasia Ossificans Progressiva
Alopecia, Abnormality of the first metatarsal bone, Aplasia/Hypoplasia of the phalanges of the ha... ORPHA:337
Bartsocas-Papas Syndrome
Popliteal pterygium, Ankyloblepharon, Toe syndactyly, Underdeveloped nasal alae, Finger syndactyl... ORPHA:1234
Fetal Valproate Spectrum Disorder
Epicanthus, Omphalocele ORPHA:1906
Fibrochondrogenesis 1
Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, Broad ischia, ... OMIM:228520
Dermoodontodysplasia
Nail dysplasia, Trichodysplasia, Thin skin OMIM:125640
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Toenail dysplasia, Short toe, Umbilical hernia, Hypo... OMIM:615297
Laurin-Sandrow Syndrome
Depressed nasal ridge, Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand... ORPHA:2378
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy, Type E brachydactyly OMIM:133690
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Abnormality of... ORPHA:83468
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Keloids, Palmoplantar keratoderma, Sparse body hair, Congenital o... ORPHA:2890
Polydactyly-Myopia Syndrome
Femoral hernia, Inguinal hernia, Postaxial hand polydactyly ORPHA:2917
Non-Distal Duplication 10Q
Depressed nasal bridge, Downslanted palpebral fissures, Micrognathia, Blepharophimosis, Convex na... ORPHA:1695
Intellectual Developmental Disorder, Autosomal Dominant 23
Wide nasal bridge, Depressed nasal bridge, Broad distal phalanx of finger, Sandal gap, Downslante... OMIM:615761
Cardiac-Valvular Ehlers-Danlos Syndrome
Genu recurvatum, Sandal gap, Atrophic scars, Recurrent shoulder dislocation, Genu valgum, Thick e... ORPHA:230851
3Mc Syndrome 1
Caudal appendage, Supernumerary nipple, Broad foot, Radioulnar synostosis, Abnormality of the abd... OMIM:257920
Chung-Jansen Syndrome
Anteverted nares, Thick eyebrow, Micrognathia, Upslanted palpebral fissure, Deeply set eye, Epica... OMIM:617991
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Frontonasal Dysplasia 1
Wide nasal bridge, Bifid nasal tip, Cataract, Broad nasal tip, Joint contracture of the hand, Cli... OMIM:136760
Acalvaria
Talipes, Omphalocele, Postaxial hand polydactyly ORPHA:945
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick eyebrow, Deeply set eye, Low posterior hairline, Thick hair, Mandibular prognathia, Short n... ORPHA:2429
Pili Torti
Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morphology, Pili torti, Brittle hai... ORPHA:2889
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Depressed nasal bridge, Small hand, Hirsutism, Epicanthus, Talipes equinovarus, Hypertelorism, Sh... OMIM:300434
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Telecanthus, Genu valg... ORPHA:1295
Pierpont Syndrome
High anterior hairline, Broad nasal tip, Microcornea, Prominent fingertip pads, Short toe, Unilat... OMIM:602342
Ramos-Arroyo Syndrome
Depressed nasal bridge, Keratitis, Abnormal hair morphology, Anteverted nares, Upslanted palpebra... OMIM:122430
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin skin, Micrognathia, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Lipoatrophy, Skin dimple ORPHA:261304
3M Syndrome
Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Abnormal dental en... ORPHA:2616
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Distal amyotrophy, Umbilical hernia, Inguinal hernia, Talipes equinov... OMIM:219150
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Wide anterior fontanel, Omphalocele, Umbilical hernia OMIM:275100
Phenobarbital Embryopathy
Aplasia/Hypoplasia of the nails, Aplasia/Hypoplasia of fingers, Epicanthus, Brachydactyly, Hypert... ORPHA:1919
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Proptosis, Preaxial foot polydactyly, Split foot, Broa... ORPHA:1540
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Sparse lateral eyebrow, Fine hair, ... ORPHA:217346
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Micrognathia, Abnormal metaphysis morphology, Bowing o... ORPHA:93267
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Small nail, Alopecia totalis, Skin tags, Hypoplastic iliac wing, Micrognath... OMIM:263650
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Fine hair, Supernumerary nipple, Abnormal dental enamel morphology, Downslanted palpe... ORPHA:1812
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Palmar telangiectasia, Absent eyelashes, Absent eyebro... OMIM:607823
Orbital Margin, Hypoplasia Of
Lower eyelid coloboma, Congenital extraocular muscle anomaly, Lacrimal duct atresia OMIM:165600
Biemond Syndrome Ii
Preaxial hand polydactyly OMIM:210350
Prolidase Deficiency
Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Abnormal hip bone morpholog... ORPHA:742
Auriculocondylar Syndrome 2B
Preauricular skin tag, Telecanthus, Micrognathia, Mandibular condyle hypoplasia, Omphalocele, Spa... OMIM:620458
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Depressed nasal bridge, Downslanted palpebral fissures, Bulbous nose, Long... OMIM:618828
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Alopecia, Milia, Nail dystrophy, Hypomelanotic macule, Spotty hypopigmenta... ORPHA:79397
Edinburgh Malformation Syndrome
Choanal atresia, Slender finger, Ulnar deviation of finger, Anteverted nares, Micrognathia, Hirsu... ORPHA:1895
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract, Small hand, Proptosis, Narrow nasal bridge, Talipes equinovarus, Convex nasal ridge, Ov... ORPHA:85172
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Long eyelashes, Mi... OMIM:618529
Monilethrix
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai... ORPHA:573
Keipert Syndrome
Depressed nasal bridge, Short distal phalanx of finger, Broad thumb, Broad distal phalanx of fing... ORPHA:2662
Acheiropody
Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Prieto Syndrome
Radial deviation of finger, Clinodactyly, 11 pairs of ribs, Inguinal hernia, Talipes equinovarus,... OMIM:309610
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Hypoplasti... OMIM:601559
Adult Syndrome
Absent nipple, Toe syndactyly, Fair hair, Breast hypoplasia, Dermal atrophy, Alopecia of scalp, S... OMIM:103285
Short Syndrome
Wide nasal bridge, Alopecia, Abnormal mandible morphology, Megalocornea, Hypoplasia of the iris, ... ORPHA:3163
Ring Chromosome 6 Syndrome
Wide nasal bridge, Short distal phalanx of finger, Low posterior hairline, Epicanthus, Hypertelorism ORPHA:1448
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Prominent nasal bridge, Micrognathia, Upslanted palpebral fissure, Hypotelorism,... OMIM:613544
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Hypoplasia of the maxilla, Ectopic lac... OMIM:167730
Keipert Syndrome
Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Prominent nose, Absent t... OMIM:301026
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Diaphyseal cortical sclerosis, Fractures of the long bones, Premature gr... OMIM:112250
Acrodysostosis
Bowing of the long bones, Epicanthus, Abnormal metacarpal morphology, Abnormal morphology of the ... ORPHA:950
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Donnai-Barrow Syndrome
Umbilical hernia, Downslanted palpebral fissures, Congenital diaphragmatic hernia, Omphalocele, W... ORPHA:2143
Biemond Syndrome Type 2
Preaxial polydactyly ORPHA:141333
Orofaciodigital Syndrome X
Finger aplasia, Depressed nasal bridge, Preaxial hand polydactyly, Fibular aplasia, Coalescence o... OMIM:165590
Whistling Face Syndrome, Recessive Form
Short palpebral fissure, Ulnar deviation of finger, Shoulder flexion contracture, Underdeveloped ... OMIM:277720
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Absent toenail,... ORPHA:3258
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Abnormal fingernail morphology, Short nose, Anteverted nares, Hypoplastic toenails... ORPHA:2701
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Atrophic scars, Low anterior hairline, Absent eyelashes, Spotty hypopigme... ORPHA:79133
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Epi... OMIM:258860
Rapp-Hodgkin Syndrome
Sparse hair, 2-3 toe cutaneous syndactyly, Sparse eyebrow, Thin skin, Palmoplantar keratoderma, S... OMIM:129400
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Macroglossia, Omphalocele OMIM:614450
Adams-Oliver Syndrome 2
Depressed nasal bridge, Alopecia, Small nail, Bulbous nose, Micrognathia, Single transverse palma... OMIM:614219
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Proptosis, Clinodactyly, Long eyelashes, Anteverted nares, Micrognathia, Hyper... OMIM:618577
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Small hand, Downslanted palpebral fissures, Hypopigmented macule, Bilatera... OMIM:145420
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Downslanted palpebral fissures, Hypertelorism, Clinodactyly of the 5t... ORPHA:217385
9q subtelomeric deletion syndrome
Anteverted nares, Short nose, Synophrys DECIPHER:52
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Depressed nasal bridge, Highly arched eyebrow, Preaxial polydactyly, Overlapping toe, Overlapping... OMIM:618142
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Short distal phalanx of finger, Alopecia, Abnormal hair morphology... ORPHA:90154
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Cataract, Slender finger, Hemiatrophy of upper limb, Anteverted nares, Mi... ORPHA:163649
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Short ribs, Postaxial polydactyly, Brachydactyly, Omphalocele, Hypo... OMIM:617895
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Proptosis, Short toe, Genu valgum, Limited elbow extension, Micrognathia, Irre... OMIM:614078
Temple-Baraitser Syndrome
Hypoplastic thumbnail, Depressed nasal bridge, Short distal phalanx of finger, Broad thumb, Broad... OMIM:611816
Intellectual Disability, Wolff Type
Wide nasal bridge, Short distal phalanx of finger, Broad thumb, Microretrognathia, Camptodactyly ... ORPHA:3080
Mietens Syndrome
Wide nasal bridge, Cataract, Microcornea, Hypoplasia of the ulna, Elbow dislocation, Avascular ne... ORPHA:2557
Pfeiffer Syndrome
Choanal atresia, Depressed nasal bridge, Broad thumb, Shortening of all middle phalanges of the f... OMIM:101600
Frontofacionasal Dysplasia
Cataract, Microcornea, Ankyloblepharon, Hypoplasia of the frontal bone, Underdeveloped nasal alae... OMIM:229400
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Flared metaphysis, Small epiphyses, Microg... ORPHA:93346
Ectodermal Dysplasia 13, Hair/Tooth Type
Wide nasal bridge, Depressed nasal bridge, Downslanted palpebral fissures, Thin eyebrow, Brittle ... OMIM:617392
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Abnormal nasal morphology, Brachydactyly, Split hand, Aplasia/Hypopla... ORPHA:2850
Silver-Russell Syndrome 2
2-3 toe syndactyly, Clinodactyly of the 5th finger, Micrognathia, Thin skin OMIM:618905
Orofaciodigital Syndrome Ix
Toe syndactyly, Short tibia, Milia, Telecanthus, Hand polydactyly, Camptodactyly OMIM:258865
Chromosome 10Q26 Deletion Syndrome
2-3 toe cutaneous syndactyly, Webbed neck, Congenital hip dislocation, Toe syndactyly, Small nail... OMIM:609625
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Sparse eyebrow, Rhizomelia, Microretrognathia, Short tibia, Stillbirth, Preaxial polydactyly, Hyp... OMIM:616300
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Highly arched eyebrow, Microcornea, Toe syndactyly, Short toe, Short dist... ORPHA:1327
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, Blepharophimosi... OMIM:206920
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Short palpebral fissure, Downslanted palpebral fissures, Bulbous nose, Multipl... OMIM:611936
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Sparse pubic hair, Atypical scarring of skin, Dystrophic toenail, Milia, Atro... ORPHA:251393
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Rhizomelic Chondrodysplasia Punctata, Type 1
Depressed nasal bridge, Rhizomelia, Alopecia, Flared metaphysis, Epiphyseal stippling, Micrognath... OMIM:215100
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Elbow flexion contracture, Inguinal hernia, Pes planus, Narrow palpebral fissure, Flex... OMIM:614438
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Short palpebral fissure, Clinodactyly of the 2nd finger... OMIM:620073
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Glass Syndrome
Downslanted palpebral fissures, Long eyelashes, Micrognathia, Facial hypotonia, Inguinal hernia, ... OMIM:612313
Rhizomelic Chondrodysplasia Punctata
Cataract, Alopecia, Rhizomelia, Abnormal epiphysis morphology, Sparse body hair, Epiphyseal stipp... ORPHA:177
Mandibuloacral Dysplasia
Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the large joints, Increa... ORPHA:2457
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormal forearm morphology, Atrophic scars, Milia, Dermal atrophy, Abnormality of the wrist, Nai... ORPHA:89843
Terminal Osseous Dysplasia
Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Dep... OMIM:300244
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Clark-Baraitser Syndrome
Depressed nasal bridge, Clinodactyly, Sandal gap, Anteverted nares, Upslanted palpebral fissure, ... OMIM:617752
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Skin erosion, Dystrophic toenail, Nevus, Palmoplantar blistering, Abnormal fingernail morphology,... ORPHA:89838
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ... ORPHA:1106
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Webbed neck, Hypertrichosis, Overlapping toe, Overlapping fingers, Long to... OMIM:618316
Kagami-Ogata Syndrome
Short palpebral fissure, Micrognathia, Diastasis recti, Inguinal hernia, Limb undergrowth, Blepha... OMIM:608149
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Cone-shaped epiphysis, Fair hair, Anteverted nares, Brachydactyly, Short ... OMIM:614613
C Syndrome
Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ... OMIM:211750
Charlie M Syndrome
Wide nasal bridge, Finger syndactyly, Abnormal fingernail morphology, Micrognathia, Abnormal toen... ORPHA:1406
Bent Bone Dysplasia Syndrome 1
Micrognathia, Hirsutism, Short clavicles, Brachydactyly, Hypoplastic pubic bone, Bent long bone OMIM:614592
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Downslanted palpebral ... ORPHA:1807
Laurin-Sandrow Syndrome
Underdeveloped nasal alae, Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia,... OMIM:135750
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Thin skin, Sparse body hair ORPHA:1810
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Talipes equinovarus, Omphalocele, Preaxial hand polydactyly OMIM:601389
Oliver-Mcfarlane Syndrome
Alopecia, Central heterochromia, Long eyelashes, Long eyebrows, Sparse hair OMIM:275400
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Retrognathia, Downslanted palpebral fissures, Hypertelorism, Short nose OMIM:613670
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Premature graying of hair, Interosseus muscle atrophy, Inguinal hernia, Distal lower limb muscle ... OMIM:619903
Char Syndrome
Highly arched eyebrow, Broad nasal tip, Thick eyebrow, Ptosis, Hypertelorism, Clinodactyly of the... OMIM:169100
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Deeply set eye, Patchy alopecia, Horner syndrome,... OMIM:141300
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Anteverted nares, Abnormality of th... ORPHA:1825
Cerebrooculofacioskeletal Syndrome 2
Cataract, Rocker bottom foot, Camptodactyly of finger, Prominent nose, Micrognathia, Death in chi... OMIM:610756
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Finger clinodactyly, Inguinal hernia, Epicanthus, Ptosis, Patellar subluxation, Bilateral talipes... ORPHA:2958
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Small nail, Broad 2nd toe, Congenital bilateral ptosis, Congenita... ORPHA:1692
Opsismodysplasia
Broad thumb, Abnormal epiphysis morphology, Hypoplastic vertebral bodies, Brachydactyly, Hypoplas... ORPHA:2746
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Proptosis, Retrognathia, Anteverted nares, Micrognathia, Mandibular aplasi... ORPHA:1832
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
Fibrochondrogenesis
Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Hypopla... ORPHA:2021
Chromosome 9P Deletion Syndrome
Highly arched eyebrow, Fair hair, Sandal gap, Dermatoglyphic variants, Micrognathia, Inguinal her... OMIM:158170
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Renpenning Syndrome
Cataract, Alopecia, Abnormal hairshaft morphology, Mandibular prognathia, Broad columella, Thin e... ORPHA:3242
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Alopecia totalis, Nail dystrophy, Nail dysplasia, Palmoplantar hyperkera... OMIM:212360
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Downslanted palpebral fissures, Prominent nasal bridge, Limited e... ORPHA:401935
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Patellar hypoplasia, Downslanted palpebral fissures, Preaxial foot polydacty... OMIM:119800
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Upslanted palpebral fissure, Deeply set eye, Hirsutism, Narrow palpebral fissure, H... OMIM:618087
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Deeply set ... OMIM:257850
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Downslanted palpebral fissures, ... OMIM:122880
Distal Duplication 18Q
Choanal atresia, Carious teeth, Deviation of finger, Camptodactyly of finger, Anteverted nares, P... ORPHA:1716
Erythrokeratodermia Variabilis
Cataract, Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalized hir... ORPHA:317
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Downslanted palpebr... ORPHA:2025
Joubert Syndrome 40
Postaxial polydactyly, Almond-shaped palpebral fissure OMIM:619582
Familial Scaphocephaly Syndrome, Mcgillivray Type
Toe syndactyly, Upslanted palpebral fissure, Hypertelorism, Mandibular prognathia, Broad hallux p... ORPHA:168624
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Broad thumb, Downslanted palpebral fissures, Micrognathia, Convex nasal ridge, Hypertel... ORPHA:3173
Opsismodysplasia
Rhizomelia, Metaphyseal cupping, Hypoplasia of the odontoid process, Hypoplastic vertebral bodies... OMIM:258480
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Polydactyly, Epicanthus, Hypertelorism, Hypoplastic ischia, Short nose OMIM:616910
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Localized skin lesion, Carpal osteolysis, Pterygium, Abnormal hand morphology, Osteolysis involvi... ORPHA:371428
Blepharocheilodontic Syndrome 1
Choanal atresia, High anterior hairline, Small nail, Clinodactyly, Nail dysplasia, Distichiasis, ... OMIM:119580
Monosomy 5P
Preauricular skin tag, Small hand, Microretrognathia, Finger syndactyly, Downslanted palpebral fi... ORPHA:281
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Skeletal muscle hypertrophy, Myopathy, Xanthomatosis, Generalized hirsutism, Aplasia/... ORPHA:2348
Odontochondrodysplasia
Depressed nasal bridge, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Mic... ORPHA:166272
Familial Cervical Artery Dissection
Abnormality of connective tissue, Striae distensae, Facial palsy, Thin skin ORPHA:36382
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, White forelock, Poliosis, Hypertelorism OMIM:277740
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Small nail, Retrognathia, Trichorrhexis nodosa, Anteverted nares, Concave nail, Nail... OMIM:234050
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Dermal atr... ORPHA:90153
2Q24 Microdeletion Syndrome
Hand clenching, Cataract, Toe syndactyly, Abnormality iris morphology, Bullet-shaped distal phala... ORPHA:1617
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Tetramelic Monodactyly
Hand monodactyly, Split hand, Split foot, Foot monodactyly OMIM:187510
Kury-Isidor Syndrome
Alopecia, Finger syndactyly, Hypertrichosis, Downslanted palpebral fissures, Anteverted nares, As... OMIM:619762
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Deeply set eye, Epi... ORPHA:2710
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Omphalocele, Short femur OMIM:601357
Oculocerebrocutaneous Syndrome
Preauricular skin tag, Alopecia, Short distal phalanx of finger, Congenital hip dislocation, Hypo... ORPHA:1647
Trisomy 4P
Depressed nasal bridge, Camptodactyly of finger, Radial club hand, Preaxial hand polydactyly, Thi... ORPHA:1738
Chromosome 3Pter-P25 Deletion Syndrome
Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Broad nasal tip, Retrognathia, ... OMIM:613792
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Choanal atresia, Cataract, Proptosis, Short distal phalanx of finger, Ant... ORPHA:1914
3Mc Syndrome 3
Highly arched eyebrow, Clinodactyly, Preaxial polydactyly, Diastasis recti, Radioulnar synostosis... OMIM:248340
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Finger syndactyly, Euryblepharon, Distichiasis, Abnormal eyelid morphology, Abnorm... ORPHA:1997
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Wide nasal bridge, Alopecia, Anteverted nares, Upslanted palpebral fissure, Bilateral single tran... ORPHA:50812
L-Ferritin Deficiency
Alopecia OMIM:615604
Meier-Gorlin Syndrome 1
Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Genu v... OMIM:224690
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short distal phalanx of finger, Anosmia, Epiphyseal stippling, Short nasa... OMIM:302950
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Hypoplastic fingernail, Abnormal dental enamel morphology, Hyperconvex fingernails, Der... ORPHA:257
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Broad nasal tip, Small epiphys... ORPHA:166016
Non-Distal Duplication 13Q
Abnormal fingernail morphology, Thick eyebrow, Micrognathia, Hypoplastic toenails, Hypotelorism, ... ORPHA:1702
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Overlapping toe, Diastasis recti, Inguinal hernia, Single transverse palmar cre... ORPHA:254528
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, Frontal upsweep of hair, Epicanthus, Hypertelorism, Short nose, Downslanted palpebr... OMIM:617061
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... OMIM:251450
Rothmund-Thomson Syndrome, Type 2
Small hand, Sparse scalp hair, Premature graying of hair, Micrognathia, Sparse eyelashes, Absent ... OMIM:268400
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Single transverse pa... OMIM:617866
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the... ORPHA:93258
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Micrognathia, Abnormal metaphysis morphology, Bo... ORPHA:2484
Periventricular Nodular Heterotopia
Hernia, Shoulder dislocation, Patellar dislocation, Thin skin ORPHA:98892
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Depressed nasal bridge, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydac... OMIM:615503
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Milia, Nail dystrophy, Death in infancy, Nail dysplasia, Enamel hypoplasia, Conge... OMIM:226700
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Scarring alope... ORPHA:79402
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Suleiman-El-Hattab Syndrome
Highly arched eyebrow, Webbed neck, Preauricular skin tag, Microretrognathia, Clinodactyly, Palpe... OMIM:618950
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Downslanted palpebral fissures, Thick nasal alae, Micrognathia, Hirsutism, Hypoplas... ORPHA:357175
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Short palpebral fissure, Propto... OMIM:615834
Spondylodysplastic Ehlers-Danlos Syndrome
Subluxation of the small joints of the hand, Dysplasia of the femoral head, Micrognathia, Bowing ... ORPHA:536471
Short Syndrome
Clinodactyly, Slender long bone, Radial deviation of finger, Telecanthus, Micrognathia, Absence o... OMIM:269880
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Satoyoshi Syndrome
Alopecia universalis, Alopecia, Genu valgum, Osteolytic defects of the phalanges of the hand, Pes... OMIM:600705
Pentasomy X
Wide nasal bridge, Small hand, Camptodactyly of finger, Micrognathia, Upslanted palpebral fissure... ORPHA:11
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Keloids, Slender long bone, Dermal atrophy, Micrognathia, Tibial ... OMIM:601812
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact... ORPHA:3098
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o... ORPHA:363417
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Clinodactyly, Prominent fingertip ... ORPHA:391372
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, Single transverse palmar c... OMIM:613443
Candidiasis, Familial, 1
Alopecia OMIM:114580
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Trisomy 12P
Wide nasal bridge, Proptosis, Supernumerary nipple, Thick eyebrow, Micrognathia, Aplasia/Hypoplas... ORPHA:1699
Ablepharon-Macrostomia Syndrome
Toe syndactyly, Hypoplastic fingernail, Cryptophthalmos, Cutaneous finger syndactyly, Hypoplasia ... OMIM:200110
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Anteverted nares, Thick eyebrow, Upslanted palpebral fissure, Deeply set eye, Sho... ORPHA:228384
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Broad thumb, Prominent fingertip pads, Downslanted palpebral fissures, Thin eyebrow, Upper eyelid... OMIM:617804
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Broad long bones, Aplasia/Hypoplasia involving the pelvis, Facial hir... ORPHA:163654
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Micrognathia, Deeply set eye, Hypertelorism, Short foot, Broad nasal ... OMIM:300882
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Toe syndactyly, Finger syndactyly, Supernumerary nipple, Epicanthus, Abnormal metacarpa... ORPHA:3224
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Skeletal muscle atrophy, Umbilical hernia, Wide distal femoral metaphy... OMIM:614856
Maxillonasal Dysplasia
Depressed nasal bridge, Short distal phalanx of finger, Depressed nasal ridge, Short columella, A... ORPHA:1248
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Flynn-Aird Syndrome
Cataract, Alopecia, Carious teeth, Alopecia of scalp OMIM:136300
Wiedemann-Steiner Syndrome
Small hand, Long hallux, Contracture of the distal interphalangeal joint of the fingers, Microgna... OMIM:605130
Pde4D Haploinsufficiency Syndrome
Micrognathia, Prominent nasal tip, Narrow palpebral fissure, Bilateral coxa valga, Hypertelorism,... ORPHA:439822
Microcephalic osteodysplastic primordial dwarfism, type III
Ulnar deviation of finger, Slender long bone, Hypoplasia of the capital femoral epiphysis, Disloc... OMIM:210730
Summitt Syndrome
Depressed nasal ridge, Finger syndactyly, Camptodactyly of finger, Genu valgum, Epicanthus, Short... ORPHA:3210
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Loss of facial adipose tissue, Myopathy, Xanthomatosis, Generalized ... ORPHA:79083
Trisomy 1Q
Aplasia/Hypoplasia of the nails, Toe syndactyly, Microretrognathia, Camptodactyly of finger, Prea... ORPHA:261344
Waardenburg Syndrome Type 1
Wide nasal bridge, White hair, Premature graying of hair, Abnormal hair morphology, Underdevelope... ORPHA:894
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Intellectual Developmental Disorder, X-Linked 21
Upslanted palpebral fissure, Hypertelorism, Mandibular prognathia, Short nose, Synophrys OMIM:300143
Ehlers-Danlos Syndrome, Periodontal Type, 1
Umbilical hernia, Atrophic scars, Inguinal hernia, Hiatus hernia, Arachnodactyly, Palmoplantar cu... OMIM:130080
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Premature graying of hair, Micrognathia, Reduced subcut... ORPHA:280365
Myoectodermal Gonadal Dysgenesis Syndrome
Highly arched eyebrow, Sparse pubic hair, Sparse eyebrow, Bifid distal phalanx of toe, Hypoplasia... OMIM:618419
Johnson Neuroectodermal Syndrome
Choanal atresia, Alopecia, Anosmia, Carious teeth, Downslanted palpebral fissures, Preaxial hand ... ORPHA:2316
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Alopecia, Bulging epiphyses, Rickets of the lower limbs, Genu va... OMIM:600785
Developmental And Epileptic Encephalopathy 73
Cataract, Narrow nasal bridge, Short nose, Hip dysplasia OMIM:618379
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br... OMIM:223800
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Thin skin OMIM:259410
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Chronic rhinitis,... ORPHA:3312
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Low posterior hairline, Post... OMIM:617925
Rudiger Syndrome
Hypoplastic fingernail, Inguinal hernia, Single transverse palmar crease, Death in infancy, Short... OMIM:268650
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Downslanted palpebral fissures, Overlapping finge... OMIM:617022
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Codas Syndrome
Depressed nasal bridge, Cataract, Abnormal pelvic girdle bone morphology, Congenital hip dislocat... ORPHA:1458
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Depressed nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, ... OMIM:617102
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Abnormal... ORPHA:1005
Microcephaly-Micromelia Syndrome
Short palpebral fissure, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humer... OMIM:251230
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Prominent nasal bridge, Deeply ... ORPHA:85279
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Wide nasal bridge, Highly arched eyebrow, Alopecia, Toe syndactyly, Carious teeth, Sparse lateral... ORPHA:3253
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Cataract, Broad hallux, Downslanted palpebral fissures, Bulbous nose, Ant... OMIM:614105
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Camptodactyly of f... ORPHA:90652
Autosomal Recessive Omodysplasia
Mesomelia, Depressed nasal bridge, Rhizomelia, Elbow dislocation, Micromelia, Pterygium, Antevert... ORPHA:93329
De Barsy Syndrome
Congenital hip dislocation, Decreased muscle mass, Umbilical hernia, Talipes calcaneovalgus, Down... ORPHA:2962
Meckel Syndrome, Type 2
Bowing of the long bones, Polydactyly, Omphalocele, Postaxial hand polydactyly OMIM:603194
Craniometaphyseal Dysplasia, Autosomal Recessive
Wide nasal bridge, Depressed nasal ridge, Mandibular prognathia, Flared metaphysis, Nasal congest... OMIM:218400
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Alopecia, Focal dermal aplasia/hypoplasia, Eyelid coloboma, Orbital cyst OMIM:164180
Ablepharon Macrostomia Syndrome
Toe syndactyly, Fine hair, Camptodactyly of finger, Umbilical hernia, Breast hypoplasia, Cryptoph... ORPHA:920
Tetrasomy 12P
Sparse eyebrow, Delayed eruption of teeth, Anteverted nares, Telecanthus, Upslanted palpebral fis... ORPHA:884
Acrofrontofacionasal Dysostosis 2
Broad thumb, Proptosis, Broad hallux, Downslanted palpebral fissures, Hand polydactyly, Ptosis, S... OMIM:239710
Harel-Yoon Syndrome
Micrognathia, Upslanted palpebral fissure, Deeply set eye, Developmental cataract, Corneal opacit... OMIM:617183
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Downslanted palpebral fissures, Thick nasal alae, Micrognathia, Hirsutism, Hypoplas... OMIM:615162
Weaver Syndrome
Broad thumb, Finger syndactyly, Fine hair, Camptodactyly of finger, Abnormal fingernail morpholog... ORPHA:3447
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Hypoplastic thumbnail, Hypoplasti... OMIM:619356
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Hip dislocation, Short no... OMIM:146510
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short ... ORPHA:93328
Recon Progeroid Syndrome
Skeletal muscle atrophy, Hyperconvex thumb nails, Long thumb, Hirsutism, Arachnodactyly, Keratoco... OMIM:620370
Peho-Like Syndrome
Epicanthus, Retrognathia, Short nose, Tapered finger OMIM:617507
Constricting Bands, Congenital
Eyelid coloboma, Talipes equinovarus, Hand polydactyly, Omphalocele, Bladder exstrophy, Gastrosch... OMIM:217100
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Horizontal eyebrow, Clinodactyly, Bulbous nose, Fronta... ORPHA:369891
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Imagawa-Matsumoto Syndrome
Clinodactyly, Downslanted palpebral fissures, Hypertrichosis, Wide nasal ridge, Large hands, Hype... OMIM:618786
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Meta... ORPHA:239
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Brachydactyly, Cone-shaped epiphyses of the phalange... OMIM:618618
Osteogenesis Imperfecta, Type Ii
Abnormal pelvic girdle bone morphology, Thin skin, Broad long bones, Tibial bowing, Limb undergro... OMIM:166210
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia... OMIM:600325
Nablus Mask-Like Facial Syndrome
Joint contracture of the hand, Clinodactyly, Frontal upsweep of hair, Sparse eyelashes, Absent ey... OMIM:608156
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Atypical scarring of skin, Palmoplantar keratoderma, Alopecia totalis, Nail dystrophy, Aplasia/Hy... ORPHA:1366
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Otopalatodigital Syndrome Type 1