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Gene: Alx4 MGI:108359

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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-Alopecia-Genital Anomalies Syndrome
Upslanted palpebral fissure, Alopecia, Depressed nasal bridge, Bifid nose, Telecanthus, Fine hair... ORPHA:228390
Frontonasal Dysplasia 2
Short palpebral fissure, Depressed nasal ridge, Sparse eyebrow, Upslanted palpebral fissure, Depr... OMIM:613451
Parietal Foramina 2
Depressed nasal bridge, Hypertelorism, Wide nasal ridge OMIM:609597
Potocki-Shaffer Syndrome
Broad nasal tip, Depressed nasal tip, Micrognathia, Epicanthus, Prominent nasal bridge, Underdeve... ORPHA:52022
Enlarged Parietal Foramina
Short clavicles, Aplasia cutis congenita of scalp, Broad thumb 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
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Setting-Sun Phenomenon, Familial Benign
Upper eyelid retraction OMIM:600598
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
22q11 duplication syndrome
Telecanthus DECIPHER:32
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... OMIM:186350
Acropectoral Syndrome
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb OMIM:605967
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Oculomotor-Levator Synkinesis
Eyelid retraction, Ptosis, Abnormal eyelid morphology OMIM:151610
Banki Syndrome
Radial deviation of finger, Clinodactyly OMIM:109300
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of hallux, Proximal placeme... OMIM:218530
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Peroxisome Biogenesis Disorder 10A (Zellweger)
Micrognathia, Downslanted palpebral fissures, Epicanthus, Prominent nose, Cataract, Death in infa... OMIM:614882
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Upper limb undergrowth, Thin skin, Omphalocele, Lower limb under... OMIM:613630
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Arthrochalasia Ehlers-Danlos Syndrome
Coxa vara, Scarring, Coxa valga, Inguinal hernia, Micrognathia, Avascular necrosis of the capital... ORPHA:1899
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Acromesomelic Dysplasia 2A
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... OMIM:200700
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Postaxial hand polydactyly, Triphalangeal thumb, Preaxial foot polydactyly ORPHA:2091
Mental Retardation, X-Linked 91
Small hand, Short 5th finger, Short nose, Cubitus valgus, Short foot, Clinodactyly, Low posterior... OMIM:300577
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Singl... OMIM:617927
17Q21.31 Microduplication Syndrome
Generalized hirsutism, Clinodactyly of the 5th finger, Thick eyebrow, Micrognathia, Epicanthus, S... ORPHA:217340
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Broad nasal tip, Long palpebral fissure, Thin eyebrow, Tapered finger, Thick nasal alae, High ant... OMIM:618147
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
X-Linked Intellectual Disability, Stoll Type
Clinodactyly of the 5th finger, Broad nasal tip, Hypoplastic nasal bridge, Widow's peak, Antevert... ORPHA:85326
Ectrodactyly-Polydactyly
Postaxial hand polydactyly, Split hand, Split foot OMIM:225290
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Sparse body hair ORPHA:55654
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Hypotrichosis 5
Alopecia, Sparse eyelashes, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes, Uncombable hair OMIM:146550
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Inguinal hernia, Club-shaped p... OMIM:184250
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short thumb, Short 2nd toe OMIM:176305
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Flexion contracture, Broad femoral neck, Flattened epiphysis, Tap... ORPHA:157965
Brachydactyly-Preaxial Hallux Varus Syndrome
Thick eyebrow, Radial club hand, Wide nasal bridge, Brachydactyly, Abnormal fingernail morphology... ORPHA:1278
Membranous Cranial Ossification, Delayed
Downslanted palpebral fissures, Depressed nasal bridge, Hypertelorism OMIM:155980
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Familial Intestinal Malrotation
Anteverted nares, Depressed nasal bridge, Hypertelorism, Long palpebral fissure ORPHA:508410
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... ORPHA:2722
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Microcephaly 4, Primary, Autosomal Recessive
Micrognathia, Hypertelorism, Thick eyebrow, Synophrys OMIM:604321
Pseudodiastrophic Dysplasia
Talipes equinovarus, Phalangeal dislocation, Rhizomelia, Omphalocele, Elbow dislocation ORPHA:85174
Rhiny
Anteverted nares, Short nose OMIM:180360
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... ORPHA:1263
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly OMIM:616890
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Deeply set eye, Short palpebral fissure, Sparse hair, Upslanted palpebral fissure, Alopecia, Broa... OMIM:617763
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Jawad Syndrome
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... OMIM:251255
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short nose, Hypopigmentation of hair, Depressed nasal ridge ORPHA:1355
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Aplasia/Hypoplasia of the skin, Macule, Dermal atrophy, Type E brachydactyly ORPHA:1962
Parc Syndrome
Microretrognathia, Absent eyebrow, Absent eyelashes, Alopecia OMIM:600331
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Lacrimal duct atresia, Depressed nasal ridge, Depressed na... ORPHA:1529
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Sparse hair, Pear-shaped nose, Widow's peak, Interphalangeal joint contracture of ... OMIM:606242
Familial Articular Hypermobility Syndrome
Abnormality of femur morphology, Inguinal hernia, Congenital hip dislocation, Shoulder dislocatio... ORPHA:2295
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Deviation of finger, Low posterior hairline ORPHA:1450
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... OMIM:609616
Craniodigital-Intellectual Disability Syndrome
Generalized hirsutism, Thick eyebrow, Abnormal hair pattern, Narrow nasal bridge, Short nose, Lon... ORPHA:1514
14Q11.2 Microdeletion Syndrome
Deeply set eye, Toe clinodactyly, Depressed nasal bridge, Micrognathia, Highly arched eyebrow, Ep... ORPHA:261120
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Atypical scarring o... ORPHA:294975
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Hidrotic Ectodermal Dysplasia
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... ORPHA:189
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Coxopodopatellar Syndrome
Abnormal epiphysis morphology, Aplasia/Hypoplasia of the patella, Hip dysplasia, Abnormal pelvic ... ORPHA:1509
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Acrogeria
Lipoatrophy, Small hand, Micrognathia, Aplasia/Hypoplasia of the skin, Thin skin, Short foot, Fin... ORPHA:2500
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Diffuse palmoplantar hyperkeratosis, Sparse body hair, Onychogryposis of toenails, Dyst... OMIM:617294
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of... OMIM:276820
X-Linked Intellectual Disability, Siderius Type
Broad nasal tip, Large hands, Synophrys, Low posterior hairline, Preaxial hand polydactyly ORPHA:85287
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Overlapping toe, Clinodactyly of the 5th finger, Short palpebral fissure, Slender finger, Upslant... OMIM:617755
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Hypoplastic toenails, Absent thumbnail, Absent fingernail, Pes planus, Triphalangeal thumb, Aplas... ORPHA:79499
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Tapered finger, Alopecia totalis, Abnormality of the nail, Short finger OMIM:302000
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Miller-Dieker Syndrome
Epicanthus, Clinodactyly of the 5th finger, Sacral dimple, Omphalocele ORPHA:531
Dermoodontodysplasia
Sparse scalp hair, Abnormal eyelid morphology, Toenail dysplasia, Sparse body hair, Fingernail dy... ORPHA:1660
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Genu recurvatum, Inguinal hernia, Pes planus, Narrow palpebral fissure, Hip dislocation, Decrease... OMIM:608763
Gastroschisis
Gastroschisis ORPHA:2368
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... OMIM:608728
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Depressed nasal bridge, Short nose, Short columella OMIM:155050
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs... OMIM:201170
Hydrocephalus With Associated Malformations
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Omphalocele, Lower limb... OMIM:236640
Pyknoachondrogenesis
Muscular edema, Abnormal iliac wing morphology, Short ribs, Palpebral edema, Micromelia, Hypoplas... ORPHA:3003
X-Linked Ehlers-Danlos Syndrome
Hernia, Thin skin, Inguinal hernia, Umbilical hernia ORPHA:75497
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Acromicric Dysplasia
Abnormal eyebrow morphology, Bulbous nose, Abnormality of femur morphology, Fifth metacarpal with... ORPHA:969
Cousin Syndrome
Facial hirsutism, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5th fin... OMIM:260660
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Flat capital femoral epiphysis, Joint contracture of the hand, Flared met... OMIM:612350
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly, Telecanthus, Milia OMIM:300484
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Adducted thumb, Micrognathia, Downslanted palpebral fissures, Synophrys, Hypertelorism, Wide nasa... ORPHA:3207
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... OMIM:611263
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Downslanted palpebral fissures, Sandal gap, Omphalocele, Broa... OMIM:311300
Hypomelanosis Of Ito
Alopecia, Syndactyly, Epicanthus, Iris coloboma, Cataract, Clinodactyly, Radial deviation of fing... OMIM:300337
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Flexion contracture, Sparse eyebrow, Arachnodactyly, Sparse eyelashes, Telecan... ORPHA:75496
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Retrognathia, Depressed nasal bridge, Epicanthus, Short nose, Anteverted nares, Hypertelorism OMIM:614069
Teebi Hypertelorism Syndrome 2
Wide anterior fontanel, Clinodactyly of the 5th finger, Thick eyebrow, Broad nasal tip, Depressed... OMIM:619736
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Convex nasal ridge, Cleft ala nasi, Telecanthus, Hypertelorism, Underdeveloped nasal alae, Wide n... ORPHA:2007
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Abnormality of the abdominal wall, Metaphyseal cupping, Severe limb shortening, Short ribs, Hypop... OMIM:151210
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Sparse hair, Alopecia, Camptodactyly of finger, Onychogryposis of fingernail, Fingernail dysplasi... ORPHA:2251
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, 2-3 toe cutaneous syndactyly, Hypoplastic toenails, Sparse scalp hair, Palmar hyperke... OMIM:613573
Non-Syndromic Metopic Craniosynostosis
Synophrys, Omphalocele ORPHA:3366
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Genu recurvatum, Inguinal hernia, Pes planus, Thin skin, Atrophic scars, Calcaneovalgus deformity OMIM:225320
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Sy... OMIM:601163
Bardet-Biedl Syndrome 7
Deeply set eye, 2-3 toe syndactyly, Postaxial polydactyly, Depressed nasal bridge, Polydactyly, C... OMIM:615984
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Ectodermal Dysplasia 13, Hair/Tooth Type
Low anterior hairline, Sparse eyelashes, Depressed nasal bridge, Thin eyebrow, Hypertelorism, Wid... OMIM:617392
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Abnormality of the palpebral fissures, Brachydactyly, Synophrys, ... OMIM:612001
Omphalocele
Omphalocele ORPHA:660
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
20P13 Microdeletion Syndrome
Wide anterior fontanel, Deeply set eye, Highly arched eyebrow, Brachydactyly, Microcornea, Polyda... ORPHA:313781
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Papule, Aplasia/Hypoplasia of the skin, Progressive flexion contracture... ORPHA:2028
Congenital Heart Defects And Ectodermal Dysplasia
Sparse scalp hair, Fragile nails, Syndactyly, Broad thumb, Thin skin OMIM:617364
Burn-Mckeown Syndrome
Short palpebral fissure, Bilateral choanal atresia, Short nose, Hypertelorism, Prominent nasal br... ORPHA:1200
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Distal Trisomy 15Q
Arachnodactyly, Micrognathia, Camptodactyly of finger, Downslanted palpebral fissures, Omphalocel... ORPHA:1707
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Highly arched eyebrow, Short nose, Hypertelorism, Juvenile cataract, Ptosis ORPHA:438178
Endove Syndrome, Limb-Only Type
Volar fingernail, Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd fi... OMIM:619217
Pseudoprogeria Syndrome
Sparse hair, Absent eyebrow, Sparse eyebrow, Alopecia, Thin skin, Absent eyelashes ORPHA:2985
Velo-Facial-Skeletal Syndrome
Clinodactyly of the 5th finger, Prominent fingertip pads, Telecanthus, Epicanthus, Abnormal thumb... ORPHA:3424
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Alopecia, Carious teeth, Telecanthus, Prominent nose, Cu... OMIM:203550
Pelvis-Shoulder Dysplasia
Dislocated radial head, Talipes equinovarus, Short palpebral fissure, Facial hirsutism, Aplasia/H... ORPHA:2839
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Wide anterior fontanel, Congenital diaphragmatic hernia, Narrow grea... OMIM:263210
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Flexion contracture, Micrognathia, Plantar hyperkeratosis, L... OMIM:233805
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of finger, Large iliac wing, Cone-shaped epiphysis, Abnormality of the pubic bone, Br... ORPHA:2511
Postaxial Tetramelic Oligodactyly
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly ORPHA:2730
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Talipes equinovarus, Depressed nasal bridge, Congenital bilateral hip dislocation, Epi... ORPHA:85288
Nevus Comedonicus Syndrome
Preaxial polydactyly, Abnormal foot morphology, Nevus flammeus, Comedo, Abnormal hair morphology,... ORPHA:64754
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand ... ORPHA:380
Trigonocephaly 1
Synophrys, Omphalocele, Preauricular skin tag OMIM:190440
Robinow Syndrome, Autosomal Recessive 2
Micrognathia, Brachydactyly, Camptodactyly, Mesomelia, Ventral hernia, Broad thumb, Long eyelashe... OMIM:618529
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Acromelic Frontonasal Dysostosis
Talipes equinovarus, Preaxial polydactyly, Broad nasal tip, Syndactyly, Bifid nose, Polydactyly, ... OMIM:603671
Intellectual Developmental Disorder, Autosomal Recessive 45
Bulbous nose, Deeply set eye, Thick eyebrow, Upslanted palpebral fissure, Retrognathia, Downslant... OMIM:615979
Triphalangeal Thumbs With Brachyectrodactyly
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand OMIM:190680
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Arachnodactyly, Palmoplantar cutis laxa, Thin skin, Atrophic scars OMIM:130080
Absence Of Fingerprints-Congenital Milia Syndrome
Camptodactyly of finger, Milia, Thin skin ORPHA:1658
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Short nose, Epicanthus ORPHA:2015
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Clinodactyly of the 5th finger, Brachydactyly, Abnormal metacarpal morphology, S... ORPHA:2370
Deafness-Craniofacial Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Alopecia OMIM:125230
Cantu Syndrome
Broad first metatarsal, Congenital hypertrophy of left ventricle, Metaphyseal widening, Congenita... OMIM:239850
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Hirsutism, Miscarriage, Talipes equinovarus, Flexion contracture, Short ribs,... ORPHA:1865
Clouston Syndrome
Nail dysplasia, Blepharitis, Sparse eyebrow, Sparse eyelashes, Alopecia, Abnormality of the hand,... OMIM:129500
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Absent eyebrow, Sparse hair, Alopecia, Toenail dysplasia, Palmar telangiectasia, Palpebral edema,... OMIM:607823
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Neonatal ... OMIM:601376
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Brachydactyly, Downslanted palpebral fissures, Telecanthus, Shor... OMIM:601224
Nicolaides-Baraitser Syndrome
Abnormality of finger, Short palpebral fissure, Sparse hair, Alopecia, Highly arched eyebrow, Bro... ORPHA:3051
Focal Dermal Hypoplasia
Alopecia, Hypoplastic pelvis, Abnormal epiphysis morphology, Umbilical hernia, Omphalocele, Diast... ORPHA:2092
Tetrasomy X
Clinodactyly of the 5th finger, Upslanted palpebral fissure, Brachydactyly, Radioulnar synostosis... ORPHA:9
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... ORPHA:2831
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity, Coarse metaphyseal trabecularization, Depressed nasal bridge, Death in childhood... OMIM:618961
Adams-Oliver Syndrome 3
Short distal phalanx of finger, 2-3 toe syndactyly, Short metatarsal, Short palpebral fissure, Hy... OMIM:614814
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Omphalocele OMIM:258320
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Chromosome 16P13.3 Duplication Syndrome
Short toe, Bulbous nose, Short phalanx of finger, Tapered finger, Long fingers, Camptodactyly, Sh... OMIM:613458
Thumb Deformity And Alopecia
Short thumb, Alopecia OMIM:188150
Fibrochondrogenesis 2
Metaphyseal cupping, Short ribs, Micrognathia, Metaphyseal widening, Hypoplastic ilia, Hypoplasti... OMIM:614524
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Bil... ORPHA:1972
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Upslanted palpebral fissure, Micrognathia, Abnormality of fibula mo... ORPHA:3035
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Clinodactyly of the 5th finger, Widely spaced toes, Skin erosion, Tapered d... OMIM:609638
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Wide anterior fontanel, Umbilical hernia, Omphalocele OMIM:275100
Adult Syndrome
Absent nipple, Sparse scalp hair, Melanocytic nevus, Toenail dysplasia, Split foot, Alopecia, Fin... ORPHA:978
Dermatosparaxis Ehlers-Danlos Syndrome
Coxa vara, Scarring, Hiatus hernia, Coxa valga, Inguinal hernia, Micrognathia, Avascular necrosis... ORPHA:1901
Pterygium Colli, Isolated
Short nose, Low posterior hairline OMIM:177990
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Omphalocele, Umbilical herni... OMIM:201000
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge, Absent eyebrow, Absent eyelashes OMIM:200130
Fetal Valproate Spectrum Disorder
Epicanthus, Omphalocele ORPHA:1906
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Hypoplastic toenails, Toenail dysplasia, Alopecia, Delayed eruption of teeth, ... ORPHA:2325
Fibrochondrogenesis 1
Rhizomelia, Omphalocele, Dumbbell-shaped long bone, Short long bone, Hypoplastic toenails, Clinod... OMIM:228520
Solitary Bone Cyst
Lytic defects of the radius, Muscular edema, Abnormal humeral diaphysis morphology, Abnormality o... ORPHA:83468
Greig Cephalopolysyndactyly Syndrome
Hirsutism, Abnormal muscle fiber morphology, Joint contracture of the hand, Inguinal hernia, Camp... OMIM:175700
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Blepharitis, Nail dysplasia, Sparse eyebrow, Sparse eyelashes, Alopecia, Carious teeth... OMIM:612843
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Sparse eyebrow, Alopecia, Sparse body hair, Coarse h... ORPHA:3361
Orofaciodigital Syndrome Xi
Bulbous nose, Wide nasal bridge, Postaxial polydactyly OMIM:612913
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, Short nose, H... OMIM:122880
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy, Type E brachydactyly OMIM:133690
Acrocephalopolydactyly
Depressed nasal ridge, Brachydactyly, Limb undergrowth, Epicanthus, Short nose, Hypertelorism, Sh... ORPHA:221054
Cutis Laxa, Autosomal Recessive, Type Iiia
Talipes equinovarus, Sparse hair, Inguinal hernia, Adducted thumb, Congenital hip dislocation, Th... OMIM:219150
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Dermoodontodysplasia
Nail dysplasia, Thin skin, Trichodysplasia OMIM:125640
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Sparse body hair, Abnormal eyelash morphology, Melanocyt... ORPHA:1008
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Temple-Baraitser Syndrome
Short distal phalanx of finger, Adducted thumb, Hypoplastic thumbnail, Depressed nasal bridge, An... OMIM:611816
Polydactyly-Myopia Syndrome
Postaxial hand polydactyly, Femoral hernia, Inguinal hernia ORPHA:2917
Acalvaria
Postaxial hand polydactyly, Talipes, Omphalocele ORPHA:945
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Depressed nasal bridge, Hypertelorism, Epicanthus OMIM:616911
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hirsutism, Talipes equinovarus, Small hand, Depressed nasal bridge, Epicanthus, Short foot, Hip d... OMIM:300434
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... ORPHA:2890
Chung-Jansen Syndrome
Thick eyebrow, Upslanted palpebral fissure, Micrognathia, Tapered finger, Epicanthus, Short nose,... OMIM:617991
Intellectual Developmental Disorder, Autosomal Dominant 23
Bulbous nose, Low anterior hairline, Upslanted palpebral fissure, Postaxial polydactyly, Depresse... OMIM:615761
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... OMIM:246570
Adams-Oliver Syndrome 4
Hypoplastic toenails, Short toe, Absent middle phalanx of the 3rd toe, Toenail dysplasia, Aplasia... OMIM:615297
Bartsocas-Papas Syndrome
Hypoplastic toenails, Corneal opacity, Ankyloblepharon, Absent thumb, Toe syndactyly, Aplasia/Hyp... ORPHA:1234
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Depressed nasal rid... ORPHA:1240
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Congenital alopecia totalis OMIM:104130
Frontofacionasal Dysplasia
Depressed nasal ridge, Absent inner eyelashes, Dimple on nasal tip, Depressed nasal bridge, Aplas... ORPHA:1791
Glass Syndrome
Nail dysplasia, Talipes equinovarus, Sparse hair, Inguinal hernia, Arachnodactyly, Micrognathia, ... OMIM:612313
Non-Distal Trisomy 10Q
Convex nasal ridge, Depressed nasal bridge, Micrognathia, Downslanted palpebral fissures, Short n... ORPHA:1695
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Palmoplantar hyperkeratosis, Erythematous plaque, Milia, Thin skin, Abnormality of the lower limb... ORPHA:158673
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Brachydactyly, Short nose OMIM:618618
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Deeply set eye, Thick eyebrow, Short nose, Synophrys, Mandibular prognathia, Thick hair, Low post... ORPHA:2429
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Downslanted palpebral fissures, Single transverse palmar crease, Short no... OMIM:206920
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hirsutism, Deeply set eye, Sparse hair, Upslanted palpebral fissure, Syndactyly, Short nose, Narr... OMIM:618087
Gand Syndrome
Deeply set eye, Sparse hair, Long toe, Broad nasal tip, Long fingers, Narrow palpebral fissure, H... OMIM:615074
Trichomegaly
Long eyelashes, Cataract OMIM:190330
Frontonasal Dysplasia 1
Joint contracture of the hand, Broad nasal tip, Brachydactyly, Bifid nose, Camptodactyly, Postaxi... OMIM:136760
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Depressed nasal ridge, Absent radius, Preaxial hand poly... ORPHA:2378
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Clinodactyly of the 5th finger, Toe clinodactyly, Finger syndactyly, Sparse hair,... ORPHA:217346
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Micrognathia, Skin dimple, Thin skin ORPHA:261304
3M Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Congenital hip dislocation, Micromelia, Hypoplasti... ORPHA:2616
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Abnormality of the nares, Aplastic/hypoplastic toenail, Brachydac... ORPHA:1295
Omphalocele, X-Linked
Omphalocele OMIM:310980
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Sparse eyelashes, Depressed nasal bridge, Micr... OMIM:616901
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Bartsocas-Papas Syndrome 1
Ablepharon, Ankyloblepharon, Absent thumb, Alopecia, Skin tags, Alopecia totalis, Cicatricial lag... OMIM:263650
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Rhizomelia, Abnormal epiphysis morphology, Omphalocele, Bowing of the long bones, P... ORPHA:93267
Pierpont Syndrome
Unilateral narrow palpebral fissure, Deeply set eye, Short toe, Prominent fingertip pads, Broad n... OMIM:602342
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Micrognathia, Brachydactyly, Short nose, Proptosis, Genu valgum, Short foot, Short met... OMIM:614078
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Orbital Margin, Hypoplasia Of
Congenital extraocular muscle anomaly, Lacrimal duct atresia, Lower eyelid coloboma OMIM:165600
Cardiac-Valvular Ehlers-Danlos Syndrome
Genu recurvatum, Tendon rupture, Inguinal hernia, Thick eyebrow, Left ventricular hypertrophy, Lo... ORPHA:230851
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Convex nasal ridge, Alopecia, Carious teeth, Enamel hypoplasia, Ridged nail OMIM:614564
Prieto Syndrome
Talipes equinovarus, Coxa valga, Inguinal hernia, 11 pairs of ribs, Epicanthus, Skin dimple, Pate... OMIM:309610
Edinburgh Malformation Syndrome
Hirsutism, Generalized hirsutism, Slender finger, Micrognathia, Long fingers, Ulnar deviation of ... ORPHA:1895
Biemond Syndrome Ii
Preaxial hand polydactyly OMIM:210350
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Inguinal hernia, Aplasia/Hypoplasia of the eyebrow, Abnormality of fibula m... ORPHA:1812
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Metaphyseal dysplasia, Anetoderma, Dermal atrophy OMIM:250450
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Hypermelanotic macule, Palmar hyperkeratosis, Alopecia, Plantar hyperkeratosis, M... ORPHA:79397
Prolidase Deficiency
Hirsutism, Generalized hirsutism, Low anterior hairline, Abnormal hip bone morphology, Arachnodac... ORPHA:742
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse hair, Skin dimple, Distichiasis, Absent eyelashes, Atrophic scars, ... ORPHA:79133
Joubert Syndrome 10
Hirsutism, Postaxial polydactyly, Downslanted palpebral fissures, Epicanthus, Wide nasal bridge OMIM:300804
Phenobarbital Embryopathy
Brachydactyly, Epicanthus, Abnormal nasal base, Aplasia/Hypoplasia of the nails, Mandibular progn... ORPHA:1919
3Mc Syndrome 1
Abnormality of the abdominal wall, Wide anterior fontanel, Clinodactyly of the 5th finger, Supern... OMIM:257920
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... ORPHA:573
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Convex nasal ridge, Talipes equinovarus, Smal... ORPHA:85172
Short Syndrome
Short palm, Corneal opacity, Deeply set eye, Abnormal pupil morphology, Sparse hair, Alopecia, Ab... ORPHA:3163
Adult Syndrome
Absent nipple, Sparse scalp hair, Fair hair, Split foot, Sparse axillary hair, Alopecia of scalp,... OMIM:103285
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Jackson-Weiss Syndrome
2-3 toe syndactyly, Convex nasal ridge, Short metatarsal, Split foot, Broad hallux phalanx, Symph... ORPHA:1540
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Congenital hip dislocation, Omphalocele OMIM:614450
Orofaciodigital Syndrome X
Hand oligodactyly, Depressed nasal bridge, Coalescence of tarsal bones, Fibular aplasia, Preaxial... OMIM:165590
Ring Chromosome 6 Syndrome
Short distal phalanx of finger, Wide nasal bridge, Epicanthus, Hypertelorism, Low posterior hairline ORPHA:1448
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Simpson-Golabi-Behmel Syndrome, Type 2
Small nail, Talipes equinovarus, Recurrent upper respiratory tract infections, Congenital hip dis... OMIM:300209
Biemond Syndrome Type 2
Preaxial polydactyly ORPHA:141333
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Deeply set eye, Micrognathia, Brachydactyly, Camptodactyly, Downslanted palpebral f... OMIM:613604
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Deeply set eye, Clinodactyly of the 5th finger, Low anterior hairline, Depressed na... OMIM:618828
Stuve-Wiedemann Syndrome 1
Sparse hair, Femoral bowing, Ulnar deviation of finger, Single transverse palmar crease, Contract... OMIM:601559
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short distal phalanx of finger, Alopecia, Aplasia/Hypoplasia of the clavicles, Micrognathia, Abno... ORPHA:90154
Keipert Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the distal ... ORPHA:2662
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Sparse eyebrow, Depressed nasal bridge, Absent lacrimal punctum, ... OMIM:167730
Velofacioskeletal Syndrome
Prominent fingertip pads, Broad palm, Short thumb, Epicanthus, Short foot, Hypertelorism, Promine... OMIM:600736
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Brachydactyly, Cariou... ORPHA:2701
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Bowing of the legs, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical scler... OMIM:112250
17P13.3 Microduplication Syndrome
Clinodactyly of the 5th finger, Congenital hip dislocation, Downslanted palpebral fissures, Wide ... ORPHA:217385
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormal nasal morphology, Sparse... ORPHA:2850
Donnai-Barrow Syndrome
Wide anterior fontanel, Congenital diaphragmatic hernia, Downslanted palpebral fissures, Umbilica... ORPHA:2143
Acrodysostosis
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, M... ORPHA:950
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Keratitis, Upslanted palpebral fissure, Depressed nasal bridge, Broad eyebrow, Anteverted nares, ... OMIM:122430
Cenani-Lenz Syndrome
Hypoplasia of the radius, Micromelia, Radioulnar synostosis, Downslanted palpebral fissures, Hypo... ORPHA:3258
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Micromelia, Brachy... OMIM:617895
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Polydactyly, Epicanthus, Short nose, Hypoplastic ischia, Hypertelorism OMIM:616910
Whistling Face Syndrome, Recessive Form
Hypertelorism, Short palpebral fissure, Talipes equinovarus, Micrognathia, Ulnar deviation of fin... OMIM:277720
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Ulnar deviation of the hand, Flexion contracture, Alopecia, ... OMIM:612079
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, ... ORPHA:3080
Fibromatosis, Gingival, With Distinctive Facies
Persistence of primary teeth, Thick eyebrow, Depressed nasal bridge, Downslanted palpebral fissur... OMIM:228560
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Epicanthus, Short finger, Clinod... OMIM:258860
Mietens Syndrome
Coxa vara, Corneal opacity, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplas... ORPHA:2557
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Dental malocclusion, Short toe, Depressed nasal bridge, Abnormali... ORPHA:1327
Rhizomelic Chondrodysplasia Punctata, Type 1
Upslanted palpebral fissure, Alopecia, Depressed nasal bridge, Micrognathia, Flared metaphysis, R... OMIM:215100
Silver-Russell Syndrome 2
Micrognathia, Clinodactyly of the 5th finger, Thin skin, 2-3 toe syndactyly OMIM:618905
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Telecanthus, Milia, Hand polydactyly, Toe syndactyly OMIM:258865
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Abnormal femoral neck/head morphology, Slender finger, Wide proximal femo... ORPHA:163649
Opsismodysplasia
Hypoplastic vertebral bodies, Hypoplastic pubic bone, Brachydactyly, Tapered finger, Hypoplastic ... ORPHA:2746
Woolly Hair
Abnormality of hair texture, Abnormal pupil morphology, Woolly hair, Brittle hair, Sparse body ha... ORPHA:170
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Kennerknecht syndrome
Toe clinodactyly, Long eyelashes, Omphalocele, Acetabular dysplasia, Toe syndactyly OMIM:600908
Short Syndrome
Lipoatrophy, Inguinal hernia, Micrognathia, Telecanthus, Lipodystrophy, Clinodactyly, Thin skin, ... OMIM:269880
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Aplasia cutis congenita on trunk or limbs, Skin erosion, Palmoplantar hyperkeratosis, Abnormal fi... ORPHA:89838
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Sparse hair, Thin skin, Abnormal fingernail morphology ORPHA:1810
Charlie M Syndrome
Micrognathia, Brachydactyly, Wide nasal bridge, Abnormal fingernail morphology, Abnormal metacarp... ORPHA:1406
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Short clavicles, Lipoatrophy, Sparse hair, Alopecia, Mi... ORPHA:2457
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair, Limb undergrowth, Epicanthus, Rhizomelia, Abnormal epiphysis morpholo... ORPHA:177
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Delayed ossification of carpal bones, Micrognathia, Flared metaphysis, Aplasia/hypoplasia involvi... ORPHA:93346
Localized Junctional Epidermolysis Bullosa
Mitten deformity, Skin detachment, Sparse axillary hair, Dystrophic fingernails, Sparse pubic hai... ORPHA:251393
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Bilateral talipes equinovarus, Depressed nasal bridge, Pr... OMIM:618142
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail ORPHA:169095
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Short palpebral fissure, Low posterior hairline, Downslanted palpebral fissures, Sh... OMIM:611936
C Syndrome
Dislocated radial head, Upslanted palpebral fissure, Micrognathia, Micromelia, Ulnar deviation of... OMIM:211750
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... ORPHA:444
Orofaciodigital Syndrome Vi
Mesoaxial hand polydactyly, Postaxial polydactyly, Broad nasal tip, Micrognathia, Brachydactyly, ... OMIM:277170
Frontofacionasal Dysplasia
Ankyloblepharon, Absent inner eyelashes, S-shaped palpebral fissures, Bifid nose, Microcornea, Te... OMIM:229400
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormal forearm morphology, Subcutaneous nodule, Papule, Abnormality of the wrist, Milia, Skin p... ORPHA:89843
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Kagami-Ogata Syndrome
Diastasis recti, Short palpebral fissure, Inguinal hernia, Flexion contracture, Micrognathia, Lon... OMIM:608149
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Micrognathia, Ulnar deviation of the wrist, Short nose, Proptosis, Long eyelashes, Clinodactyly, ... OMIM:618577
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Inguinal hernia, Bilateral talipes equinovarus, Finger clinodactyly, Epicanthus, Skin dimple, Pat... ORPHA:2958
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Bulbous nose, Depressed nasal bridge, Brachydactyly, Enamel hypoplasia, Epicanthus, Sandal gap, A... OMIM:600991
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Areflexia of lower limbs, Inguinal hernia, Fiber type grouping, Interosseus muscle atrophy, Thena... OMIM:619903
Fibrochondrogenesis
Wide anterior fontanel, Short ribs, Camptodactyly of finger, Micromelia, Brachydactyly, Downslant... ORPHA:2021
Focal Facial Dermal Dysplasia Type Iii
Sparse hair, Highly arched eyebrow, Abnormal hair pattern, Aplasia/Hypoplasia of the skin, Downsl... ORPHA:1807
Hemifacial Atrophy, Progressive
Dental malocclusion, Deeply set eye, Patchy alopecia, Short mandibular rami, Poliosis, Delayed er... OMIM:141300
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Mosaic Trisomy 1
2-3 finger syndactyly, Finger clinodactyly, Single transverse palmar crease, Downslanted palpebra... ORPHA:1692
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Flexion contracture, Inguinal hernia, Pes planus, Narrow palpebral fissure, Thin ski... OMIM:614438
Rapp-Hodgkin Syndrome
Progressive alopecia, Small nail, Sparse hair, Absent lacrimal punctum, Syndactyly, Decreased num... OMIM:129400
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows, Central heterochromia OMIM:275400
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... OMIM:135750
Chromosome 6Q11-Q14 Deletion Syndrome
Hypotelorism, Upslanted palpebral fissure, Broad nasal tip, Single transverse palmar crease, Epic... OMIM:613544
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Depressed nasal bridge, Abnormality of the wrist, Epicanthus, Abnormal thumb m... ORPHA:1825
Kosaki Overgrowth Syndrome
Downslanted palpebral fissures, Thin skin, Long foot, Ptosis OMIM:616592
Pfeiffer Syndrome
Elbow ankylosis, Humeroradial synostosis, Depressed nasal bridge, Shallow orbits, Short middle ph... OMIM:101600
Orofaciodigital Syndrome Xv
Broad hallux, Anteverted nares, Wide nasal bridge, Postaxial polydactyly OMIM:617127
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Foot oligodactyly, Omphalocele, Short femur OMIM:601357
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Short ribs, Hypo... OMIM:613330
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Talipes equinovarus, Omphalocele, Prune belly OMIM:601389
Teebi Hypertelorism Syndrome 1
Upslanted palpebral fissure, Small hand, Micrognathia, Preauricular pit, Hypopigmented macule, Br... OMIM:145420
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Thick eyebrow, Depressed nasal bridge, Delayed eruption of teeth, Downslanted palpebral fissures,... ORPHA:2025
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly scalp hair, Woolly hair, Alopecia OMIM:601217
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Short metacarpal, Depressed nasal bridge, Cone-shaped epiphysis, Brachydactyly, Short ... OMIM:614613
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela... OMIM:234050
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Long fingers, Downslanted pa... ORPHA:1617
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Broad nasal tip, Downslanted palpebral fissures, Short nose, Hypertelorism OMIM:613670
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Camptodactyly of toe, Depressed nasal tip,... OMIM:300244
Distal Trisomy 18Q
Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia, Camptodactyly of finger, Bilateral ... ORPHA:1716
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Meckel Syndrome, Type 8
Talipes equinovarus, Depressed nasal ridge, Polydactyly, Postaxial hand polydactyly, Short nose OMIM:613885
Opsismodysplasia
Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Shallow orbits, Long palpebr... OMIM:258480
9q subtelomeric deletion syndrome
Anteverted nares, Short nose, Synophrys DECIPHER:52
Nablus Mask-Like Facial Syndrome
Low anterior hairline, Short palpebral fissure, Sparse eyebrow, Sparse eyelashes, Retrognathia, D... OMIM:608156
Monosomy 5P
Microretrognathia, Inguinal hernia, Small hand, Preauricular skin tag, Downslanted palpebral fiss... ORPHA:281
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Bardet-Biedl Syndrome 19
Polydactyly, Hyposmia OMIM:615996
Clark-Baraitser Syndrome
Low hanging columella, Upslanted palpebral fissure, Depressed nasal bridge, Epicanthus, Short nos... OMIM:617752
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Micrognathia, Short nose, Proptosis, Mandibular aplasia, Ant... ORPHA:1832
Chromosome 9P Deletion Syndrome
Fair hair, Inguinal hernia, Upslanted palpebral fissure, Clinodactyly of the 4th toe, Micrognathi... OMIM:158170
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Camptodactyly of finger, Palmoplantar hyperkeratosis, Alopecia totalis, Developme... OMIM:212360
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Popliteal pterygium, Downslanted palpebral fi... OMIM:119800
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Lipoatrophy, Cellulitis, Skeletal muscle hypertrophy, Xanthomatosis, Abnor... ORPHA:2348
Char Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Broad nasal tip, Distal/middle symphalangism of 5t... OMIM:169100
Erythrokeratodermia Variabilis
Corneal opacity, Generalized hirsutism, Alopecia, Brachydactyly, Tapered finger, Patchy palmoplan... ORPHA:317
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Renpenning Syndrome
Clinodactyly of the 5th finger, Abnormal hairshaft morphology, Upslanted palpebral fissure, Alope... ORPHA:3242
Chondrodysplasia Punctata 1, X-Linked Recessive
Short distal phalanx of finger, Depressed nasal bridge, Short nose, Short nasal septum, Anosmia, ... OMIM:302950
Widow'S Peak Syndrome
Inguinal hernia, Abnormality of the hand, High iliac wing, Arthralgia of the hip, Widow's peak, N... OMIM:314570
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Ptosis, Congenital diaphragmatic hernia, Alopecia, Skin tags, Con... ORPHA:1647
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
3Mc Syndrome 3
Diastasis recti, Preaxial polydactyly, Highly arched eyebrow, Radioulnar synostosis, Epicanthus i... OMIM:248340
Microphthalmia With Limb Anomalies
Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bone, Elbow dislo... ORPHA:1106
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly OMIM:601420
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand OMIM:612576
Familial Cervical Artery Dissection
Abnormality of connective tissue, Facial palsy, Striae distensae, Thin skin ORPHA:36382
Trisomy 4P
Low anterior hairline, Thick eyebrow, Depressed nasal bridge, Radial club hand, Camptodactyly of ... ORPHA:1738
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Cone-shaped epiphysis, Micromeli... ORPHA:166272
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Hirsutism, Osteolysis involving bones of the lower limbs, Localized skin lesio... ORPHA:371428
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Cerebrooculofacioskeletal Syndrome 2
Deeply set eye, Convex nasal ridge, Sparse hair, Micrognathia, Death in childhood, Camptodactyly ... OMIM:610756
Oculodentodigital Dysplasia
Sparse hair, Microcornea, Carious teeth, Short nose, Cataract, Slow-growing hair, Abnormal metaph... ORPHA:2710
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Abnormal eyebrow morphology, Flexion contracture, Alopecia, Aplas... ORPHA:90153
Non-Distal Trisomy 13Q
Hypoplastic toenails, Hypotelorism, Thick eyebrow, Arachnodactyly, Micrognathia, Abnormal fingern... ORPHA:1702
Joubert Syndrome 40
Almond-shaped palpebral fissure, Postaxial polydactyly OMIM:619582
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Dislocated radial head, Fragmented epiphys... ORPHA:166016
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hirsutism, Micrognathia, Downslanted palpebral fissures, Hypoplasia of the ulna, Wide nose, Thick... ORPHA:357175
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Brachydactyly, Short thumb, Limited elbow extension and supination, Downs... ORPHA:401935
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial poly... OMIM:617866
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Depressed nasal bridge, Short 1st metacarpal, Monkey wrench f... OMIM:251450
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Bulbous nose, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Short nose, Cat... OMIM:614105
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Bulbous nose, Low hanging columella, Upslanted palpebral fissure, Retrognathia, ... OMIM:613792
Wiedemann-Steiner Syndrome
Short toe, Clinodactyly of the 5th finger, Thick eyebrow, Depressed nasal tip, Short phalanx of f... OMIM:605130
Epidermolysis Bullosa, Junctional 1B, Severe
Nail dysplasia, Congenital localized absence of skin, Syndactyly, Enamel hypoplasia, Milia, Death... OMIM:226700
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Upslanted palpebral fissure, Alopecia, Bilateral single transverse palmar creases, ... ORPHA:50812
Periventricular Nodular Heterotopia
Hernia, Shoulder dislocation, Thin skin, Patellar dislocation ORPHA:98892
Rothmund-Thomson Syndrome, Type 2
Sparse hair, Sparse eyebrow, Alopecia, Depressed nasal bridge, Congenital hip dislocation, Delaye... OMIM:268400
Intellectual Developmental Disorder, Autosomal Dominant 26
Prominent nasal tip, Thick eyebrow, Short palpebral fissure, Decreased palmar creases, Upslanted ... OMIM:615834
Manitoba Oculotrichoanal Syndrome
Abnormal hair morphology, Nasolacrimal duct obstruction, Omphalocele, Eyelid coloboma OMIM:248450
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Acetabular spurs, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Depressed nasal br... OMIM:615503
White Forelock With Malformations
Poliosis, White forelock, Hypertelorism, Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:277740
Blepharo-Cheilo-Odontic Syndrome
Abnormal hair quantity, Euryblepharon, Carious teeth, Distichiasis, Hypertelorism, Ectropion of l... ORPHA:1997
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... OMIM:617102
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Bulbous nose, Depressed nasal bridge, Tapered finger, Downslanted palpebral fissures, Single tran... OMIM:617061
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Alopecia, Hyperconvex fingernails, Papule, Aplasia/Hypoplasia ... ORPHA:257
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Upslanted palpebral fissure, Depressed nasal bridge, Short nose, Anteverted nares, Hypertelorism OMIM:613443
Trisomy 12P
Clinodactyly of the 5th finger, Thick eyebrow, Supernumerary nipple, Micrognathia, Epicanthus, Sh... ORPHA:1699
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Overlapping toe, Flexion contracture of finger, Inguinal hernia, Flexion contrac... ORPHA:254528
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Anonychia, Enamel hypoplasia, Milia, Nail dystrophy, Atrophic scars, Palmoplant... ORPHA:79402
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Short nose, Anteverted nares, Hypertelorism, Wide nasal bridge OMIM:616430
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Short middle phalanx of toe, Enamel hypoplasia, Downslanted palpebral fissures, Sho... OMIM:251190
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... OMIM:601560
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Femoral-Facial Syndrome
Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Inguinal hernia, Short femur, Up... ORPHA:1988
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Alopecia, Shor... ORPHA:337
Infantile Spasms-Broad Thumbs Syndrome
Convex nasal ridge, Micrognathia, Downslanted palpebral fissures, Broad thumb, Cataract, Hypertel... ORPHA:3173
Lenz-Majewski Hyperostotic Dwarfism
Sparse hair, Proximal symphalangism of hands, Inguinal hernia, Hyperextensibility of the finger j... OMIM:151050
Cataract, Aberrant Oral Frenula, And Growth Retardation
Short palpebral fissure, Upslanted palpebral fissure, Posterior polar cataract, Epicanthus, Short... OMIM:115645
Meier-Gorlin Syndrome 1
Hyperconvex nail, Absent glenoid fossa, Genu valgum, Long eyelashes, Absent sternal ossification,... OMIM:224690
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Depressed nasal bridge, Cone-shaped epiphysis, Upper limb undergrowth, Broad hallu... ORPHA:439822
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Short... ORPHA:363417
Ablepharon-Macrostomia Syndrome
Ablepharon, Clinodactyly of the 5th finger, Talipes equinovarus, Cryptophthalmos, Absent eyebrow,... OMIM:200110
L-Ferritin Deficiency
Alopecia OMIM:615604
Candidiasis, Familial, 1
Alopecia OMIM:114580
Crandall Syndrome
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair ORPHA:202
Johnson Neuroectodermal Syndrome
Bulbous nose, Absent eyebrow, Sparse hair, Alopecia, Carious teeth, Downslanted palpebral fissure... ORPHA:2316
Keipert Syndrome
Broad distal phalanx of finger, Brachydactyly, Broad hallux, Wide nose, Broad thumb, Prominent no... OMIM:301026
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Dislocation of the femoral head, Hip contracture, Cone-shaped epiphyses of the phalanges of the h... OMIM:210730
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Microgna... OMIM:617925
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Abnormality of the ankles, Abnormal femoral head morphology, Hypoplasia of th... ORPHA:239
Martsolf Syndrome 2
Overlapping toe, Broad nasal tip, Camptodactyly of finger, Camptodactyly, Cataract, Developmental... OMIM:619420
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Depressed nasal bridge, Brachydactyly, Short nose, Proptosis, Cho... ORPHA:1914
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp, Cataract, Carious teeth OMIM:136300
Trisomy 1Q
Hypoplastic toenails, Microretrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Camptod... ORPHA:261344
Rudiger Syndrome
Flexion contracture, Inguinal hernia, Single transverse palmar crease, Hypoplastic fingernail, De... OMIM:268650
Gms Syndrome
Small hand, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Short nose, Riege... OMIM:138770
Familial Scaphocephaly Syndrome, Mcgillivray Type
Upslanted palpebral fissure, Broad hallux phalanx, Mandibular prognathia, Hypertelorism, Toe synd... ORPHA:168624
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Supernumerary nipple, Alopecia, Abnormal nasal morphology, Short hallux, Abnormal metacarpal morp... ORPHA:3224
Pentasomy X
Clinodactyly of the 5th finger, Upslanted palpebral fissure, Small hand, Micrognathia, Camptodact... ORPHA:11
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Nail dysplasia, Limited pronation/supination of forearm, Rhizo-meso-acromelic limb shortening, Th... ORPHA:163654
Myoectodermal Gonadal Dysgenesis Syndrome
Diastasis recti, Sparse eyebrow, Bifid distal phalanx of toe, Highly arched eyebrow, Frontal upsw... OMIM:618419
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Acroosteolysis of distal phalanges (feet), Osteolytic defect... ORPHA:280365
Intellectual Developmental Disorder, X-Linked 21
Upslanted palpebral fissure, Short nose, Synophrys, Mandibular prognathia, Hypertelorism OMIM:300143
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Hypertelorism, Prominent fingertip pads, Retrognathia, Broad nasal tip, Recurrent upper respirato... ORPHA:391372
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Wide anterior fontanel, Abnormal hair quantity, Micrognathia, Abn... ORPHA:3098
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature graying of hair, Deeply set eye, Retrognathia, Abnormality of the nares, Small hand, Br... OMIM:300845
Kury-Isidor Syndrome
Hypertrichosis, Deeply set eye, Talipes equinovarus, Alopecia, Brachydactyly, Proximal placement ... OMIM:619762
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Thin skin OMIM:259410
Satoyoshi Syndrome
Alopecia universalis, Skeletal muscle hypertrophy, Alopecia, Brachydactyly, Osteolytic defects of... OMIM:600705
Waardenburg Syndrome Type 1
Thick eyebrow, White hair, Hypopigmentation of hair, Telecanthus, Short nose, White eyebrow, Whit... ORPHA:894
Codas Syndrome
Depressed nasal bridge, Congenital hip dislocation, Brachydactyly, Delayed eruption of teeth, Abn... ORPHA:1458
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy, Skeletal muscle hypertrophy, Xanthomatosis, Calf muscle pseud... ORPHA:79083
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Clinodact... ORPHA:521308
Cornelia De Lange Syndrome 5
Broad nasal tip, Depressed nasal bridge, Long eyelashes, Deeply set eye, Clinodactyly of the 5th ... OMIM:300882
Carpenter Syndrome
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... ORPHA:65759
Saul-Wilson Syndrome
Short distal phalanx of finger, Wide anterior fontanel, Cone-shaped epiphyses of the phalanges of... OMIM:618150
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Talipes equinovalgus, Abno... ORPHA:536471
5Q14.3 Microdeletion Syndrome