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Gene: Alx4 MGI:108359

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.

Human diseases associated with Alx4 (7 diseases)
Human diseases predicted to be associated with Alx4 (1659 diseases)

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

Disease	Matching phenotypes	Source
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Telecanthus, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hyper...	ORPHA:228390
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r...	OMIM:613451
Parietal Foramina 2	Depressed nasal bridge, Wide nasal ridge, Hypertelorism	OMIM:609597
Potocki-Shaffer Syndrome	Epicanthus, Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Micrognathia, Dep...	ORPHA:52022
Enlarged Parietal Foramina	Aplasia cutis congenita of scalp, Short clavicles, 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	Matching phenotypes	Source
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Digital Clubbing, Isolated Congenital	Clubbing	OMIM:119900
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Developmental Dysplasia Of The Hip 1	Acetabular dysplasia, Congenital hip dislocation	OMIM:142700
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	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	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	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 hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Gastroschisis	Abdominal wall defect, Gastroschisis	OMIM:230750
Oculomotor-Levator Synkinesis	Ptosis, Eyelid retraction, 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	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Peroxisome Biogenesis Disorder 10A (Zellweger)	Death in infancy, Epicanthus, Cataract, Prominent nose, Hypertelorism, Micrognathia, Epiphyseal s...	OMIM:614882
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Arthrochalasia Ehlers-Danlos Syndrome	Epicanthus, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Mi...	ORPHA:1899
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru...	ORPHA:2141
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Thin skin, Lower limb under...	OMIM:613630
Scalp Defects And Postaxial Polydactyly	Postaxial polydactyly type A	OMIM:181250
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb	ORPHA:2091
Intellectual Developmental Disorder, X-Linked 91	Small hand, Low posterior hairline, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, S...	OMIM:300577
Ptosis, Hereditary Congenital 1	Congenital ptosis	OMIM:178300
Marcus Gunn Phenomenon	Unilateral ptosis, Congenital ptosis	OMIM:154600
Acromesomelic Dysplasia 2A	Death in infancy, Hypoplasia of the ulna, Short femur, Short humerus, Aplasia/Hypoplasia of the p...	OMIM:200700
Orofaciodigital Syndrome Xviii	Brachydactyly, Sandal gap, Single transverse palmar crease, Prominent nasal bridge, Postaxial pol...	OMIM:617927
17Q21.31 Microduplication Syndrome	Epicanthus, Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Synophrys, Clinodactyly o...	ORPHA:217340
X-Linked Intellectual Disability, Stoll Type	Hypoplastic nasal bridge, Anteverted nares, Broad nasal tip, Hypertelorism, Widow's peak, Clinoda...	ORPHA:85326
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Ectrodactyly-Polydactyly	Split hand, Postaxial hand polydactyly, Split foot	OMIM:225290
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Microcephaly 4, Primary, Autosomal Recessive	Hypertelorism, Micrognathia, Synophrys, Thick eyebrow, Low hanging columella	OMIM:604321
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Inguinal hernia, Club-shaped proximal femur, Brachydactyly, Hypoplasia of the odontoi...	OMIM:184250
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Tapered finger, Thenar muscle atrophy, Flat capital femoral epiphysis, Flexion contracture, Absen...	ORPHA:157965
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe	OMIM:176305
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Abnormal fingernail morphology, Preaxial hand polydactyly, Synophrys, Radial cl...	ORPHA:1278
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Membranous Cranial Ossification, Delayed	Downslanted palpebral fissures, Depressed nasal bridge, Hypertelorism	OMIM:155980
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Tapered finger, Broad nasal tip, Hypertelorism, Wide nasal bridge, Narrow jaw, Thin eyebrow, Long...	OMIM:618147
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Familial Intestinal Malrotation	Long palpebral fissure, Depressed nasal bridge, Anteverted nares, Hypertelorism	ORPHA:508410
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Prominent no...	OMIM:251255
Pseudodiastrophic Dysplasia	Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus	ORPHA:85174
Rhiny	Short nose, Anteverted nares	OMIM:180360
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Interphalangeal joint contracture of finger, Preaxial hand polydactyly, Widow's peak, Pear-shaped...	OMIM:606242
Polydactyly, Postaxial, With Progressive Myopia	Postaxial hand polydactyly	OMIM:174310
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, M...	ORPHA:1263
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares, Hypopigmentation of hair	ORPHA:1355
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 of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy, Type E brachydactyly	ORPHA:1962
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia, Microretrognathia	OMIM:600331
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares, Low posterior hairline	ORPHA:1450
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Depressed nasal bridge, Camp...	ORPHA:1529
Familial Articular Hypermobility Syndrome	Abnormality of the knee, Inguinal hernia, Congenital hip dislocation, Abnormality of the elbow, A...	ORPHA:2295
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Pes planus, Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ...	OMIM:609616
14Q11.2 Microdeletion Syndrome	Epicanthus, Toe syndactyly, Depressed nasal bridge, Highly arched eyebrow, Hypertelorism, Microgn...	ORPHA:261120
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Thick hair, Abnormal hair pattern, Long eyelashes, Short ...	ORPHA:1514
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Upper limb phocomelia, Atypical scarring of skin, Stillbirth, Polydactyly, Abnormal h...	ORPHA:294975
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Epicanthus, Broad hallux, Overlapping toe, Sandal gap, Broad nasal tip, Prominent nose, Hypertelo...	OMIM:617755
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dermal atrophy, Alopec...	OMIM:617294
X-Linked Intellectual Disability, Siderius Type	Broad nasal tip, Preaxial hand polydactyly, Synophrys, Low posterior hairline, Large hands	ORPHA:85287
Acrogeria	Aplasia/Hypoplasia of the skin, Lipoatrophy, Micrognathia, Small hand, Skin ulcer, Fine hair, Sho...	ORPHA:2500
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Pes planus, Hypoplastic toenails, Short thumb, Absent thumbnail, Absent toenail, Absent fingernai...	ORPHA:79499
Coxopodopatellar Syndrome	Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp...	ORPHA:1509
Acromesomelic Dysplasia, Grebe Type	Death in infancy, Bowing of the long bones, Aplasia/Hypoplasia of the thumb, Brachydactyly, Tarsa...	ORPHA:2098
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Tapered finger, Short finger, Death in childhood, Abnormality of the nail	OMIM:302000
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Miller-Dieker Syndrome	Omphalocele, Sacral dimple, Epicanthus, Clinodactyly of the 5th finger	ORPHA:531
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Dermoodontodysplasia	Sparse scalp hair, Abnormal eyelid morphology, Melanocytic nevus, Fingernail dysplasia, Thin skin...	ORPHA:1660
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of finger	OMIM:155050
Gastroschisis	Gastroschisis	ORPHA:2368
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Acrofacial Dysostosis Syndrome Of Rodriguez	Deep-set nails, 11 pairs of ribs, Absent forearm, Overlapping toe, Single transverse palmar creas...	OMIM:201170
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
X-Linked Ehlers-Danlos Syndrome	Umbilical hernia, Inguinal hernia, Thin skin, Hernia	ORPHA:75497
Pyknoachondrogenesis	Palpebral edema, Micromelia, Short iliac bones, Abnormal iliac wing morphology, Short long bone, ...	ORPHA:3003
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Hypertelorism, Wi...	OMIM:619736
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Hypertelorism, Micrognathia, Synophrys, Wide nasal bridge, Downslanted palpebral fissures, Adduct...	ORPHA:3207
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Pes planus, Short metacarpal, Camptodactyly of finger, Thenar muscle atrophy, Tapered finger, Fla...	OMIM:612350
Acromicric Dysplasia	Abnormal eyebrow morphology, Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Abnorm...	ORPHA:969
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Hypomelanosis Of Ito	Syndactyly, Alopecia, Cataract, Epicanthus, Hypertelorism, Hand polydactyly, Radial deviation of ...	OMIM:300337
Orofaciodigital Syndrome Viii	Syndactyly, Telecanthus, Polydactyly, Short tibia, Milia	OMIM:300484
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Sparse scalp hair, Epicanthus, Telecanthus, Sparse eyelashes, Skeletal muscle atrophy, ...	ORPHA:75496
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Epicanthus, Hypertelorism, Osteolysis involving bones of the upper limbs, O...	ORPHA:88630
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Hypopigmented skin patches, Pa...	ORPHA:2251
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Telecanthus, Cleft ala nasi, Underdeveloped nasal alae, Hypertelorism, Wide nasal bridge, Convex ...	ORPHA:2007
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Pes planus, Inguinal hernia, Genu recurvatum, Calcaneovalgus deformity, Atrophic scars, Thin skin	OMIM:225320
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla...	OMIM:613573
Non-Syndromic Metopic Craniosynostosis	Omphalocele, Synophrys	ORPHA:3366
20P13 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Prominent nasal bridge, Highly arched eyebrow, Hypertelorism, Wid...	ORPHA:313781
Bardet-Biedl Syndrome 7	Depressed nasal bridge, Postaxial polydactyly, Hypertelorism, 2-3 toe syndactyly, Deeply set eye,...	OMIM:615984
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th...	OMIM:601163
Omphalocele	Omphalocele	ORPHA:660
Chromosome 15Q13.3 Deletion Syndrome	Hypertelorism, Synophrys, Abnormality of the palpebral fissures, Clinodactyly of the 5th finger, ...	OMIM:612001
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, 2-3 toe cutaneous syndactyly, Deep plantar crea...	OMIM:617364
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Trigonocephaly 2	Downslanted palpebral fissures, Depressed nasal bridge, Wide nasal bridge, Hypertelorism	OMIM:614485
Distal Duplication 15Q	Omphalocele, Congenital muscular torticollis, Arachnodactyly, Camptodactyly of finger, Micrognath...	ORPHA:1707
Burn-Mckeown Syndrome	Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Bilateral choanal atresia, Short nose, ...	ORPHA:1200
Fatty Acyl-Coa Reductase 1 Deficiency	Juvenile cataract, Depressed nasal bridge, Highly arched eyebrow, Hypertelorism, Short nose, Ptosis	ORPHA:438178
Juvenile Hyaline Fibromatosis	Death in infancy, Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Progressive flexion co...	ORPHA:2028
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Telecanthus, Prominent nose, Carious teeth, Hi...	OMIM:203550
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Epicanthus, Telecanthus, Ulnar deviation of the hand, Congenital diaphragmatic herni...	OMIM:263210
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Orofaciodigital Syndrome Type 10	Telecanthus, Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micro...	ORPHA:2756
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of...	ORPHA:2839
Velo-Facial-Skeletal Syndrome	Prominent fingertip pads, Epicanthus, Telecanthus, Hypertelorism, Abnormal thumb morphology, Wide...	ORPHA:3424
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Cousin Syndrome	Micrognathia, Low anterior hairline, Prominent protruding coccyx, Hypoplastic iliac wing, Clinoda...	OMIM:260660
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
X-Linked Intellectual Disability, Stocco Dos Santos Type	Epicanthus, Cataract, Depressed nasal bridge, Congenital bilateral hip dislocation, Talipes equin...	ORPHA:85288
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Alopecia, Anteverted nares, Sandal gap, Highly arched eyebrow, Curly eyelash...	ORPHA:3051
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Abnormal hair morphology, Abnormal foot morphology, Preaxial p...	ORPHA:64754
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Miscarriage, Micromelia, Micrognathia, Bowing of the legs, Hypoplastic ilia, Hy...	ORPHA:1865
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Ptosis, Brachydactyly, Bilateral single transverse palmar creases, Abnormality of the wrist, Abno...	ORPHA:2511
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity, Abnormal pelvic girdle bone morphology, Hip dysplasia, Proptosis, Abnormal metac...	ORPHA:2370
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Abnormality of the hand, Slow-growing...	OMIM:129500
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Alopecia totalis, Aplasia cutis congenita, Widely spaced toes, Absent fin...	OMIM:609638
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Epicanthus, Short nose, Anteverted nares, Micrognathia	ORPHA:2015
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Camptodactyly of finger, Thin skin	ORPHA:1658
Intellectual Developmental Disorder, Autosomal Recessive 45	Anteverted nares, Highly arched eyebrow, Hypertelorism, Bulbous nose, Synophrys, Wide nasal bridg...	OMIM:615979
Cantu Syndrome	Epicanthus, Broad hallux, Curly eyelashes, Short hallux, Coxa valga, Metaphyseal widening, Broad ...	OMIM:239850
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Epicanthus, Telecanthus, Single transverse palmar crease, Underd...	OMIM:601224
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Subcutaneous nodule, Hernia, Ab...	ORPHA:2092
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb...	ORPHA:3035
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Death in infancy	OMIM:258320
Tetrasomy X	Epicanthus, Hypertelorism, Upslanted palpebral fissure, Radioulnar synostosis, Hip dysplasia, Cli...	ORPHA:9
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va...	ORPHA:2831
Dermatosparaxis Ehlers-Danlos Syndrome	Epicanthus, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hi...	ORPHA:1901
Thumb Deformity And Alopecia	Short thumb, Alopecia	OMIM:188150
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Inguinal hernia, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber mo...	OMIM:175700
Absent Eyebrows And Eyelashes With Mental Retardation	Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge	OMIM:200130
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Finger syndactyly, Toe syndactyly, Breast hypoplasia,...	ORPHA:978
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Adams-Oliver Syndrome 3	Short palm, Hypoplastic fifth fingernail, Short metatarsal, 2-3 toe syndactyly, Short 5th toe, Ap...	OMIM:614814
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ...	OMIM:201000
Trigonocephaly 1	Omphalocele, Epicanthus, Synophrys, Upslanted palpebral fissure, Preauricular skin tag	OMIM:190440
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Corneal opacity, ...	OMIM:618961
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal fingernai...	ORPHA:2325
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Sh...	OMIM:614524
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Epicanthus, Anteverted nares, Single transverse palmar crease, Hypertelorism, Micrognathia, Bulbo...	OMIM:613604
Pterygium Colli, Isolated	Short nose, Low posterior hairline	OMIM:177990
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Cari...	OMIM:612843
Acrocephalopolydactyly	Epicanthus, Hypertelorism, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, ...	ORPHA:221054
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni...	ORPHA:1008
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Orofaciodigital Syndrome Xi	Bulbous nose, Wide nasal bridge, Postaxial polydactyly	OMIM:612913
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Short hallux, Subcutaneous nodule, Aplasia/Hypoplasia of the phalanges o...	ORPHA:337
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Gand Syndrome	Long toe, Broad nasal tip, Blepharophimosis, Long fingers, Hypertelorism, Wide nasal bridge, Narr...	OMIM:615074
Fibrochondrogenesis 1	Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, P...	OMIM:228520
Fetal Valproate Spectrum Disorder	Omphalocele, Epicanthus	ORPHA:1906
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Frontofacionasal Dysplasia	Telecanthus, Cataract, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Bifid nasal tip...	ORPHA:1791
3Mc Syndrome 1	Conjunctival telangiectasia, Synophrys, Clinodactyly of the 5th finger, Caudal appendage, Highly ...	OMIM:257920
Dermoodontodysplasia	Thin skin, Nail dysplasia, Trichodysplasia	OMIM:125640
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Proximal femoral metaphyseal abnormali...	ORPHA:83468
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Abnormality of the knee, Recurrent loss of toenails and fingernails, Abnormality of the lower lim...	ORPHA:158673
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Corneal opacity, Alopecia totalis, Aplasia/Hypoplasia of the d...	ORPHA:1234
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Exostoses With Anetodermia And Brachydactyly, Type E	Dermal atrophy, Type E brachydactyly	OMIM:133690
Adams-Oliver Syndrome 4	Hypoplastic toenails, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phal...	OMIM:615297
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cutaneous syndactyly, Palmoplantar kera...	ORPHA:2890
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Polydactyly-Myopia Syndrome	Postaxial hand polydactyly, Femoral hernia, Inguinal hernia	ORPHA:2917
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Underdevel...	ORPHA:2378
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Non-Distal Duplication 10Q	Depressed nasal bridge, Hypertelorism, Micrognathia, Blepharophimosis, Short nose, Downslanted pa...	ORPHA:1695
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Acalvaria	Omphalocele, Postaxial hand polydactyly, Talipes	ORPHA:945
Chung-Jansen Syndrome	Epicanthus, Anteverted nares, Tapered finger, Hypertelorism, Micrognathia, Synophrys, Upslanted p...	OMIM:617991
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Epicanthus, Depressed nasal bridge, Hypertelorism	OMIM:616911
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Brachydactyly	OMIM:618618
Intellectual Developmental Disorder, Autosomal Dominant 23	Sandal gap, Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Micrognathia, Bulbou...	OMIM:615761
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Increased laxity of ankles, Abnormal femor...	ORPHA:750
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Frontonasal Dysplasia 1	Ptosis, Epicanthus, Cataract, Broad nasal tip, Bifid nasal tip, Hypertelorism, Postaxial hand pol...	OMIM:136760
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thick hair, Synophrys, Low posterior hairline, Deeply set eye, Short nose,...	ORPHA:2429
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Epicanthus, Micromelia...	ORPHA:1240
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Telecanthus, Hypertelorism, Synophrys, Anosmia, Genu valgum, Aplastic/hypoplastic ...	ORPHA:1295
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Epicanthus, Depressed nasal bridge, Hypertelorism, Hip dislocation, Small hand, Short foot, Talip...	OMIM:300434
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Lipoatrophy, Micrognathia, Skin dimple, Thin skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Pes planus, Inguinal hernia, Genu recurvatum, Sandal gap, Recurrent shoulder dislo...	ORPHA:230851
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Wide anterior fontanel, Macroglossia, Umbilical hernia	OMIM:275100
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Thick eyebrow, Rocker botto...	ORPHA:2616
Bartsocas-Papas Syndrome 1	Skin tags, Cicatricial lagophthalmos, Micrognathia, Flexion contracture, Ankyloblepharon, Hypopla...	OMIM:263650
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Supernumerary ni...	ORPHA:217346
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Congenital hip dislocation, Hip dislocation, Distal amyotrophy, Thin skin, Talip...	OMIM:219150
Pierpont Syndrome	Wide nose, Telecanthus, Broad nasal tip, Blepharophimosis, Hypertelorism, Short toe, High anterio...	OMIM:602342
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Abn...	ORPHA:93267
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Phenobarbital Embryopathy	Mandibular prognathia, Epicanthus, Hypertelorism, Aplasia/Hypoplasia of fingers, Abnormal nasal b...	ORPHA:1919
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple,...	ORPHA:1812
Orbital Margin, Hypoplasia Of	Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly	OMIM:165600
Biemond Syndrome Ii	Preaxial hand polydactyly	OMIM:210350
Prolidase Deficiency	Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Arachnodactyly, Micrognathia, Low...	ORPHA:742
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic m...	ORPHA:79397
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Brushfield spots, Long fingers, Synophrys, Gener...	ORPHA:1895
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab...	OMIM:607823
Nabais Sa-De Vries Syndrome, Type 1	Epicanthus, Telecanthus, Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow, B...	OMIM:618828
Prieto Syndrome	11 pairs of ribs, Epicanthus, Inguinal hernia, Coxa valga, Patellar subluxation, Skin dimple, Tal...	OMIM:309610
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo...	ORPHA:573
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Keipert Syndrome	Broad hallux phalanx, Ptosis, Epicanthus, Depressed nasal bridge, Prominent nasal bridge, Short h...	ORPHA:2662
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Joubert Syndrome 10	Epicanthus, Postaxial polydactyly, Wide nasal bridge, Downslanted palpebral fissures, Hirsutism	OMIM:300804
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Toe syndactyly, Sparse axillary hair, Split hand, Na...	OMIM:103285
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypertelorism, Hypoplasia of the max...	ORPHA:1540
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Narrow nasal bridge, Overhanging nasal tip, Cataract, Small hand, Cone-shaped epiphyses of the ph...	ORPHA:85172
Donnai-Barrow Syndrome	Omphalocele, Congenital diaphragmatic hernia, Wide anterior fontanel, Widow's peak, Umbilical her...	ORPHA:2143
Chromosome 6Q11-Q14 Deletion Syndrome	Epicanthus, Single transverse palmar crease, Prominent nasal bridge, Broad nasal tip, Hypertelori...	OMIM:613544
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ...	OMIM:112250
Ring Chromosome 6 Syndrome	Epicanthus, Hypertelorism, Wide nasal bridge, Low posterior hairline, Short distal phalanx of finger	ORPHA:1448
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Aplasia/Hypoplasia of the clavicles, Alopecia, Abnormal fingertip morphology, Microgn...	ORPHA:90154
Hernia, Double Inguinal	Inguinal hernia	OMIM:142350
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Hypertelorism, ...	OMIM:167730
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial b...	OMIM:601559
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Macroglossia, Congenital hip dislocation	OMIM:614450
Cenani-Lenz Syndrome	Micromelia, Foot oligodactyly, Absent fingernail, Synostosis of carpal bones, Hypoplasia of the u...	ORPHA:3258
Short Syndrome	Alopecia, Posterior embryotoxon, Corneal opacity, Telecanthus, Abnormal dental enamel morphology,...	ORPHA:3163
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp...	ORPHA:79133
Rapp-Hodgkin Syndrome	Ptosis, Absent lacrimal punctum, Syndactyly, Sparse eyelashes, Slow-growing hair, Supernumerary n...	OMIM:129400
Orofaciodigital Syndrome Iv	Epicanthus, Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydacty...	OMIM:258860
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Epicanthus, Anteverted nares, Abnormal fingernail morphology, Hypertelorism, H...	ORPHA:2701
17P13.3 Microduplication Syndrome	Wide nose, Congenital hip dislocation, Hypertelorism, Clinodactyly of the 5th finger, Short nose,...	ORPHA:217385
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation	Depressed nasal bridge, Anteverted nares, Hypertelorism, Abnormal hair morphology, Keratitis, Ups...	OMIM:122430
Teebi Hypertelorism Syndrome 1	Omphalocele, Preauricular pit, Hypopigmented macule, Highly arched eyebrow, Micrognathia, Bilater...	OMIM:145420
Adams-Oliver Syndrome 2	Alopecia, Depressed nasal bridge, Single transverse palmar crease, Hypertelorism, Micrognathia, B...	OMIM:614219
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo...	OMIM:614078
Whistling Face Syndrome, Recessive Form	Epicanthus, Telecanthus, Shoulder flexion contracture, Prominent nasal bridge, Underdeveloped nas...	OMIM:277720
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Epicanthus, Cataract, Depressed nasal bridge, Anteverted nares, Coxa valga, Hypertelorism, Wide a...	ORPHA:163649
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Chromosome 10Q26 Deletion Syndrome	Omphalocele, Epicanthus, Scapular winging, Congenital hip dislocation, Toe syndactyly, Sandal gap...	OMIM:609625
Robinow Syndrome, Autosomal Recessive 2	Omphalocele, Ventral hernia, Broad hallux, Sandal gap, Micrognathia, Mesomelia, Long eyelashes, C...	OMIM:618529
Intellectual Disability, Wolff Type	Microretrognathia, Camptodactyly of finger, Hypertelorism, Bulbous nose, Wide nasal bridge, Low p...	ORPHA:3080
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Elbow dis...	ORPHA:2557
Temple-Baraitser Syndrome	Wide nose, Epicanthus, Depressed nasal bridge, Broad hallux, Proximal placement of thumb, Hypopla...	OMIM:611816
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Depressed nasal bridge, Sparse eyelashes, Hypertelorism, Low anterior hairline, Wid...	OMIM:617392
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Depressed nasal bridge, Overlapping toe, Highly arched eyebrow, Postaxial polydactyly, Preaxial p...	OMIM:618142
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata...	ORPHA:950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Epicanthus, Depressed nasal bridge, Hypertelorism, Polydactyly, Short nose, Hypoplastic ischia	OMIM:616910
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Abnormal nasal morphology, Split hand, Sparse body hair, Aplasia/Hyp...	ORPHA:2850
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Silver-Russell Syndrome 2	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Thin skin, Micrognathia	OMIM:618905
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo...	ORPHA:251393
Orofaciodigital Syndrome Ix	Telecanthus, Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Milia	OMIM:258865
Keipert Syndrome	Unilateral ptosis, Wide nose, Broad hallux, Prominent nose, Hypertelorism, Absent toenail, Broad ...	OMIM:301026
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Aplasia cutis congenita, Congenital absence of skin of limbs	OMIM:600360
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the r...	OMIM:617895
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Low posterior hairline, Multiple palmar creases, Blepharophimosi...	OMIM:611936
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Cutis Laxa, Autosomal Recessive, Type Iiib	Pes planus, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Hip dislocation, Fin...	OMIM:614438
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,...	ORPHA:170
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Ulnar deviation of the wrist, Hypertelorism, Micrognathia, Wide nasal bridge, P...	OMIM:618577
Glass Syndrome	Inguinal hernia, Facial hypotonia, Anterior tibial bowing, Arachnodactyly, Micrognathia, Long eye...	OMIM:612313
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n...	OMIM:206920
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Rhizomelia, Depressed nasal bridge, Micrognathia, Flared metaphysis, Developmental cata...	OMIM:215100
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Telecanthus, Broad hallux, Micrognathia, Clinodactyly of the 2nd toe, Coxa valg...	OMIM:620073
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Squared iliac ...	OMIM:616300
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc...	ORPHA:2457
Rhizomelic Chondrodysplasia Punctata	Alopecia, Cataract, Rhizomelia, Epicanthus, Epiphyseal stippling, Abnormal epiphysis morphology, ...	ORPHA:177
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delaye...	ORPHA:93346
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Palmoplan...	ORPHA:89838
Terminal Osseous Dysplasia	Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Hypertelorism, Abnormal han...	OMIM:300244
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Depressed nasal bridge, A...	ORPHA:1327
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Abnormality of the wrist, Subcutaneous nodule, Abnormality of the elbow, Atrophic scars...	ORPHA:89843
Frontofacionasal Dysplasia	Telecanthus, Cataract, Underdeveloped nasal alae, Hypertelorism, Ankyloblepharon, Microcornea, Ey...	OMIM:229400
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
C Syndrome	Omphalocele, Epicanthus, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Postaxial ha...	OMIM:211750
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Micrognathia, Coxa valga, Long fingers, Flexion co...	OMIM:608149
Clark-Baraitser Syndrome	Epicanthus, Depressed nasal bridge, Anteverted nares, Sandal gap, Hypertelorism, Upslanted palpeb...	OMIM:617752
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Hypertelorism, Hirsutism, Upslanted palpebral fissure, Narrow ...	OMIM:618087
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Omphalocele, Long toe, Overlapping toe, Highly arched eyebrow, Long fingers, Synophrys, Cutaneous...	OMIM:618316
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Inguinal hernia, Thenar muscle atrophy, Premature graying of hair, Areflexia of lower limbs, Dist...	OMIM:619903
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Preaxial hand polydactyly, Prune belly, Talipes equinovarus	OMIM:601389
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Charlie M Syndrome	Finger syndactyly, Abnormal fingernail morphology, Hypertelorism, Micrognathia, Split hand, Wide ...	ORPHA:1406
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Sparse body hair, Thin skin	ORPHA:1810
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Poliosis, Dental malocclusion, Horner syndrome, Deeply set eye, Patchy...	OMIM:141300
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Epicanthus, Inguinal hernia, Coxa valga, Finger clinodactyly, Patellar subluxation, Skin dimple, ...	ORPHA:2958
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Long eyebrows, Long eyelashes, Sparse hair	OMIM:275400
Bent Bone Dysplasia Syndrome 1	Bent long bone, Micrognathia, Hypoplastic pubic bone, Short clavicles, Hirsutism, Brachydactyly	OMIM:614592
Opsismodysplasia	Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypoplastic vertebral bodies, Abnorm...	ORPHA:2746
Focal Facial Dermal Dysplasia Type Iii	Epicanthus, Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Abnormal hair pattern, Highly...	ORPHA:1807
Mosaic Trisomy 1	Hypoplastic thumbnail, Congenital diaphragmatic hernia, Single transverse palmar crease, Congenit...	ORPHA:1692
Laurin-Sandrow Syndrome	Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact...	OMIM:135750
Char Syndrome	Distal/middle symphalangism of 5th finger, Highly arched eyebrow, Broad nasal tip, Hypertelorism,...	OMIM:169100
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Depressed nasal bridge, Anteverted nares, Short metatarsal, Advanced ossificati...	OMIM:614613
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Hypertelorism, Broad nasal tip, Short nose, Retrognathia, Downslanted palpebral fissures	OMIM:613670
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Epicanthus, Depressed nasal bridge, Anteverted nares, Proximal placement of th...	ORPHA:1825
Cerebrooculofacioskeletal Syndrome 2	Cataract, Rocker bottom foot, Camptodactyly of finger, Prominent nose, Micrognathia, Developmenta...	OMIM:610756
Fibrochondrogenesis	Omphalocele, Brachydactyly, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anter...	ORPHA:2021
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Depressed nasal ridge, Proptosis, Mandibular aplasia, Short nose,...	ORPHA:1832
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Opsismodysplasia	Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti...	OMIM:258480
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipo...	ORPHA:2348
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Developmental cataract, N...	OMIM:212360
Renpenning Syndrome	Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Cataract, Epicanthus, Prominent n...	ORPHA:3242
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Underdeveloped nasal alae, Hypertelorism, Syno...	ORPHA:2025
Chromosome 9P Deletion Syndrome	Omphalocele, Long toe, Epicanthus, Narrow nail, Inguinal hernia, Hyperconvex nail, Highly arched ...	OMIM:158170
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Ulnar deviation of the hand, Depressed nasal bridge, Hypertelorism, Hypoplasia of th...	OMIM:122880
Joubert Syndrome 40	Almond-shaped palpebral fissure, Postaxial polydactyly	OMIM:619582
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Arachnodactyly, Camptodactyly of finge...	ORPHA:1716
Oculodentodigital Dysplasia, Autosomal Recessive	Micrognathia, Long nose, Hypoplasia of the maxilla, Microcornea, Deeply set eye, Persistent pupil...	OMIM:257850
Monosomy 5P	Microretrognathia, Finger syndactyly, Epicanthus, Inguinal hernia, Small hand, Preauricular skin ...	ORPHA:281
White Forelock With Malformations	Hypertelorism, White forelock, Poliosis, Aplasia/Hypoplasia of the distal phalanges of the toes	OMIM:277740
Erythrokeratodermia Variabilis	Alopecia, Cataract, Corneal opacity, Tapered finger, Abnormal hair morphology, Patchy palmoplanta...	ORPHA:317
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Abnormal hand morphology, Localized skin lesion, Subcutaneous nodule, Osteolysis inv...	ORPHA:371428
Blepharocheilodontic Syndrome 1	Choanal atresia, Lagophthalmos, Hypertelorism, Ectropion of lower eyelids, High anterior hairline...	OMIM:119580
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Synophrys	DECIPHER:52
Oculocerebrocutaneous Syndrome	Skin tags, Finger syndactyly, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morph...	ORPHA:1647
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Short femur, Foot oligodactyly, Amelia	OMIM:601357
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Anteverted nares, Sparse eyelashes, Concave nail, Abnormality of hair t...	OMIM:234050
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the clavicles, Absent eyelashes, Fle...	ORPHA:90153
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
2Q24 Microdeletion Syndrome	Toe syndactyly, Cataract, Camptodactyly of finger, Hypertelorism, Long fingers, Bullet-shaped dis...	ORPHA:1617
3Mc Syndrome 3	Sacral dimple, Diastasis recti, Highly arched eyebrow, Clinodactyly, Preaxial polydactyly, Radiou...	OMIM:248340
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Mi...	ORPHA:166272
Infantile Spasms-Broad Thumbs Syndrome	Cataract, Convex nasal ridge, Hypertelorism, Micrognathia, Downslanted palpebral fissures, Broad ...	ORPHA:3173
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Hypotelorism, Microcornea, Deeply set eye, Cli...	ORPHA:2710
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist...	OMIM:302950
Kury-Isidor Syndrome	Finger syndactyly, Alopecia, Ptosis, Anteverted nares, Rocker bottom foot, Proximal placement of ...	OMIM:619762
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Trisomy 4P	Depressed nasal bridge, Camptodactyly of finger, Abnormal hair pattern, Preaxial hand polydactyly...	ORPHA:1738
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Cataract, Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypertelorism...	ORPHA:1914
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Flexion contracture, Flat glenoid fossa, Cutaneous finger syndacty...	OMIM:224690
Wilson-Turner Syndrome	Cataract, Tapered finger, Broad nasal tip, Micrognathia, Small hand, Short foot, Deeply set eye, ...	ORPHA:3459
Melnick-Needles Syndrome	Omphalocele, Bowing of the long bones, Micrognathia, Coxa valga, Hip dislocation, Cone-shaped epi...	ORPHA:2484
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Finger syndactyly, Abnormal eyelid morphology, Hypertelorism, Carious tee...	ORPHA:1997
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Long toe, Epicanthus, Inguinal hernia, Overlapping toe, Diastasis recti, Single tran...	ORPHA:254528
Non-Distal Duplication 13Q	Arachnodactyly, Abnormal fingernail morphology, Micrognathia, Hypoplastic toenails, Abnormal eyel...	ORPHA:1702
Chromosome 3Pter-P25 Deletion Syndrome	Ptosis, Epicanthus, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal...	OMIM:613792
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Brachydactyly, Prominent nasal bridge, Hypertelorism, Sho...	ORPHA:401935
L-Ferritin Deficiency	Alopecia	OMIM:615604
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Epicanthus, Radial bowing, Single transverse palmar crease, Micromelia, Micrognathia, Postaxial p...	OMIM:617866
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Broad nasal tip, Hypertelorism, Micrognathia, De...	ORPHA:166016
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair, Anteverted nares, Epicanthus, Wide nasal bridge, Upslanted palpebral fiss...	ORPHA:50812
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, Micro...	OMIM:268400
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Aplasia/Hypoplasia of the skin, Hypoplastic fingernail, Abnormal dental enamel morpholo...	ORPHA:257
Periventricular Nodular Heterotopia	Patellar dislocation, Shoulder dislocation, Thin skin, Hernia	ORPHA:98892
Epidermolysis Bullosa, Junctional 1B, Severe	Death in infancy, Syndactyly, Congenital localized absence of skin, Atrophic scars, Nail dystroph...	OMIM:226700
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ...	OMIM:615503
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, Milia, Apla...	ORPHA:79402
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Pes planus, Epicanthus, Single transverse palmar crease, Tapered finger, Synophrys, Widow's peak,...	OMIM:617804
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Wide nose, Hypertelorism, Micrognathia, Synophrys, Clinodactyly, Thick na...	ORPHA:357175
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Intellectual Developmental Disorder, Autosomal Dominant 26	Epicanthus, Depressed nasal bridge, Anteverted nares, Decreased palmar creases, Highly arched eye...	OMIM:615834
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Micrognathia, Synophrys, Clinodactyly of the 5th finger, Short phalanx of f...	OMIM:605130
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Pentasomy X	Camptodactyly of finger, Hypertelorism, Micrognathia, Small hand, Wide nasal bridge, Short foot, ...	ORPHA:11
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Single transverse palmar crease, Micrognathia, Synophrys, Low anterior hairline, Clinodactyly of ...	OMIM:617061
Short Syndrome	Enlarged epiphyses, Telecanthus, Inguinal hernia, Lipodystrophy, Lipoatrophy, Micrognathia, Absen...	OMIM:269880
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Ablepharon-Macrostomia Syndrome	Omphalocele, Absent eyebrow, Ablepharon, Ventral hernia, Hypoplasia of eyelid, Short metacarpal, ...	OMIM:200110
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Upslanted palp...	ORPHA:1988
Suleiman-El-Hattab Syndrome	Microretrognathia, Epicanthus, Inguinal hernia, Single transverse palmar crease, Highly arched ey...	OMIM:618950
Trisomy 12P	Epicanthus, Supernumerary nipple, Hypertelorism, Micrognathia, Wide nasal bridge, Aplasia/Hypopla...	ORPHA:1699
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Skeletal muscle atrophy, Arachnodactyly, Wide distal femoral metaphysis, Denti...	OMIM:614856
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnorma...	ORPHA:3098
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, Hypertelorism, 2-3 toe...	OMIM:613443
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Broad long bones, Curly eyelashes, Abnormal metatarsal morphology, Multiple rows of e...	ORPHA:163654
Spondylodysplastic Ehlers-Danlos Syndrome	Numerous nevi, Multiple joint contractures, Single transverse palmar crease, Micrognathia, Metaph...	ORPHA:536471
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Cataract, Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, ...	OMIM:614105
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Talipes, Micrognathia, Hypoplastic pubic bone, Cone-shaped epiphyses of the phal...	OMIM:210730
Familial Scaphocephaly Syndrome, Mcgillivray Type	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypertelorism, Upslanted palpebral f...	ORPHA:168624
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Single transverse palmar crease, Broad nasal tip, Blepharophimosis, Hypert...	ORPHA:391372
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Deeply set eye, Clin...	OMIM:300882
Flynn-Aird Syndrome	Carious teeth, Alopecia, Alopecia of scalp, Cataract	OMIM:136300
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Upslanted palpebral fissure, Deeply set eye, Short nose, Thick ...	ORPHA:228384
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Premature Aging Syndrome, Penttinen Type	Short palm, Brachydactyly, Lipoatrophy, Micrognathia, Hyperextensibility of the knee, Skin nodule...	OMIM:601812
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Epicanthus, Short hallux, Supernumerary nipple, Abno...	ORPHA:3224
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,...	ORPHA:439822
Trisomy 1Q	Omphalocele, Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenit...	ORPHA:261344
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Short palm, Epicanthus, Diastasis recti, Highly arched eyebrow, Bifid distal phalanx...	OMIM:618419
Summitt Syndrome	Finger syndactyly, Wide nose, Epicanthus, Camptodactyly of finger, Hypertelorism, Depressed nasal...	ORPHA:3210
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Wide anterior fontanel, Preaxial polydactyly, Hypoplastic pu...	OMIM:617925
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Aplasia/Hypoplasia o...	ORPHA:79083
Satoyoshi Syndrome	Pes planus, Alopecia, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of ...	OMIM:600705
Rudiger Syndrome	Death in infancy, Inguinal hernia, Single transverse palmar crease, Flexion contracture, High axi...	OMIM:268650
Waardenburg Syndrome Type 1	Mandibular prognathia, Hypopigmentation of hair, White eyelashes, White eyebrow, Telecanthus, Und...	ORPHA:894
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Micrognathia, Premature graying of hair, Increased intraabdominal fat, Xanthomatosis, Generalized...	ORPHA:280365
Lethal Congenital Contracture Syndrome 10	Omphalocele, Torticollis, Overlapping fingers, Micrognathia, Femoral bowing, Macroglossia, Short ...	OMIM:617022
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow...	OMIM:223800
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Choanal atresia, Absent eyelashes, Preaxial hand polydactyly, Bulbous n...	ORPHA:2316
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Hypertelorism, Synophrys, Upslanted palpebral fissure, Short nose	OMIM:300143
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Stillbirth, Thin skin	OMIM:259410
Ehlers-Danlos Syndrome, Periodontal Type, 1	Inguinal hernia, Arachnodactyly, Hiatus hernia, Atrophic scars, Thin skin, Palmoplantar cutis lax...	OMIM:130080
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Familial Cervical Artery Dissection	Facial palsy, Abnormality of connective tissue, Thin skin, Striae distensae	ORPHA:36382
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nose, Abnormal nasal bone morphology, Choanal atresia, Abnormality of the hand, Underdevelop...	ORPHA:521308
Codas Syndrome	Delayed eruption of teeth, Ptosis, Short metacarpal, Congenital hip dislocation, Depressed nasal ...	ORPHA:1458
Polydactyly, Postaxial, Type A6	Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger	OMIM:615226
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia, Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphy...	OMIM:600785
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Alopecia, Abnormal dental enamel morphology, Prominent nose, Hypertelorism, Ab...	ORPHA:1005
Maxillonasal Dysplasia	Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Depressed nasal r...	ORPHA:1248
Otopalatodigital Syndrome Type 2	Omphalocele, Bowing of the long bones, Camptodactyly of finger, Short hallux, Micrognathia, Tarsa...	ORPHA:90652
Meckel Syndrome, Type 2	Omphalocele, Bowing of the long bones, Polydactyly, Postaxial hand polydactyly	OMIM:603194
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Oli...	OMIM:251230
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Deepl...	ORPHA:85279
Weaver Syndrome	Deep-set nails, Finger syndactyly, Inguinal hernia, Pes cavus, Abnormal fingernail morphology, Th...	ORPHA:3447
Oculocerebrocutaneous Syndrome	Alopecia, Congenital hip dislocation, Focal dermal aplasia/hypoplasia, Orbital cyst, Eyelid coloboma	OMIM:164180
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Ablepharon, Toe syndactyly, Camptodactyly of finger, Abnormal hair p...	ORPHA:920
Constricting Bands, Congenital	Omphalocele, Syndactyly, Eyelid coloboma, Hand polydactyly, Gastroschisis, Talipes equinovarus, B...	OMIM:217100
Acrofrontofacionasal Dysostosis 2	Syndactyly, Wide nose, Broad hallux, Hypertelorism, Wide anterior fontanel, Widow's peak, Hand po...	OMIM:239710
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Hypoplastic thumbnail, Hypoplastic toenails, Hypoplastic fifth fingernail, Abse...	OMIM:619356
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Wide nose, Hypertelorism, Micrognathia, Synophrys, Clinodactyly, Thick na...	OMIM:615162
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomel...	ORPHA:93329
Tetrasomy 12P	Delayed eruption of teeth, Telecanthus, Anteverted nares, Hypertelorism, Sparse eyebrow, Upslante...	ORPHA:884
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Depressed nasal bridge, Hypertelorism, Elbow dislocation, Micrognathia...	ORPHA:93328
Harel-Yoon Syndrome	Mandibular prognathia, Corneal opacity, Micrognathia, Developmental cataract, Upslanted palpebral...	OMIM:617183
Recon Progeroid Syndrome	Skeletal muscle atrophy, Arachnodactyly, Proximal placement of thumb, Hyperconvex thumb nails, Ab...	OMIM:620370
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Abnormal dental enamel morphology, Highly arched eye...	ORPHA:3253
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Cataract, Hip dysplasia	OMIM:618379
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Telec...	OMIM:617102
Peho-Like Syndrome	Epicanthus, Short nose, Retrognathia, Tapered finger	OMIM:617507
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Highly a...	OMIM:600325
De Barsy Syndrome	Epicanthus, Inguinal hernia, Decreased muscle mass, Congenital hip dislocation, Lipodystrophy, Ta...	ORPHA:2962
Imagawa-Matsumoto Syndrome	Mandibular prognathia, Wide nasal ridge, Hypertelorism, Large hands, Camptodactyly, Clinodactyly,...	OMIM:618786
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypoplasia of teet...	ORPHA:248
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Depressed nasal bridge, Sandal gap, Proximal placement of thumb, Short ...	ORPHA:90650
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Tibial bowing, Abnormal pelvic girdle bone morphology, Thi...	OMIM:166210
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Hypoplasia of the maxilla, Low anterior hairline, Sparse hair, D...	OMIM:608156
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Epicanthus, Anteverted nares, Rocker bottom foot, Delayed eruption of permanent teeth, Clinodacty...	OMIM:618506
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Developmental And Epileptic Encephalopathy 89	Omphalocele, Microretrognathia, Highly arched eyebrow, Sparse eyebrow, Flexion contracture, Upsla...	OMIM:619124
Stickler Syndrome Type 1	Cataract, Hypoplasia of the maxilla, Proptosis, Abnormal epiphysis morphology, Abnormal vertebral...	ORPHA:90653
Intellectual Developmental Disorder With Neuropsychiatric Features	Downslanted palpebral fissures, Depressed nasal bridge, Highly arched eyebrow, Hypertelorism	OMIM:617532
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Overlapping toe, Sparse eyelashes, Underdeveloped nasal alae, Sparse eyebrow, B...	OMIM:613026
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Muenke Syndrome	Ptosis, Broad hallux, Hypertelorism, Capitate-hamate fusion, Low anterior hairline, Dental malocc...	OMIM:602849
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,...	ORPHA:1366
Omodysplasia 1	Short humerus, Epicanthus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee fle...	OMIM:258315
Chromosome 16Q22 Deletion Syndrome	Epicanthus, Broad hallux, Single transverse palmar crease, Depressed nasal bridge, Highly arched ...	OMIM:614541
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Telecanthus, Hyper...	OMIM:218400
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Arterial Tortuosity Syndrome	Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Hiatus hernia, Micrognathia, Fl...	OMIM:208050
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Epicanthus, Depressed nasal bridge, Abnormality of the hand, H...	ORPHA:369891
Temple-Baraitser Syndrome	Hypoplastic thumbnail, Triangular shaped distal phalanx of the thumb, Low anterior hairline, Thic...	ORPHA:420561
Blepharocheilodontic Syndrome 2	Lagophthalmos, Hypertelorism, Ectropion of lower eyelids, Cutaneous syndactyly, Euryblepharon, Na...	OMIM:617681
Kerion Celsi	Alopecia	ORPHA:499
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasia of the radiu...	OMIM:602875
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Hall-Riggs Syndrome	Delayed eruption of teeth, Epicanthus, Anteverted nares, Thick hair, Slow-growing hair, Prominent...	ORPHA:2107
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Cataract, Anteverted nares, Down-sloping shoulders, Micrognathia, Upslanted palpebral ...	OMIM:619694
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Wide nose, Cataract, Corneal opacity, Telecanthus, Hypertelorism, Abnormal ey...	ORPHA:2399
Melnick-Needles Syndrome	Omphalocele, Pes planus, Short humerus, Hypoplastic scapulae, Micrognathia, Coxa valga, Flared me...	OMIM:309350
Occipital Horn Syndrome	Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Abnormality of the wrist, Fe...	ORPHA:198
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Carious teeth, Conical incisor, Onycholysis, Nail dystrophy,...	OMIM:614564
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Ascher Syndrome	Wide nose, Abnormal eyelid morphology, Hypertelorism, Upper eyelid edema, Deviation of finger, Bl...	ORPHA:1253
Microcephaly-Microcornea Syndrome, Seemanova Type	Epicanthus, Cataract, Microcornea, Upslanted palpebral fissure, Retrognathia	ORPHA:2528
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Schisis Association	Omphalocele, Congenital diaphragmatic hernia, Micromelia	ORPHA:63862
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Mandibular prognathia, Epicanthus, Hypertelorism, Sparse eyebrow, Short columella, Sparse hair, D...	OMIM:619989
Gomez-Lopez-Hernandez Syndrome	Alopecia, Anteverted nares, Hypertelorism, Wide anterior fontanel, Opacification of the corneal s...	OMIM:601853
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Mandibular prognathia, Highly arched eyebrow, Hypertelorism, Synophrys, Anosmia, Blepharophimosis...	ORPHA:2057
Char Syndrome	Toe syndactyly, Depressed nasal bridge, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, S...	ORPHA:46627
Perlman Syndrome	Epicanthus, Anteverted nares, Bilateral single transverse palmar creases, Micrognathia, Wide nasa...	ORPHA:2849
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Anteverted nares, Corneal dystrophy, Broad nasal tip, Upslanted palpebral fissure, Deeply set eye...	OMIM:617763
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Thin skin, Striae distensae	OMIM:225310
Arterial Tortuosity Syndrome	Inguinal hernia, Femoral hernia, Arachnodactyly, Rocker bottom foot, Hiatus hernia, Coxa valga, A...	ORPHA:3342
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Anteverted nares, Corneal opacity, Hypertelorism, Keratitis, Micrognathia, Synophrys, Wide nasal ...	OMIM:602562
Temtamy Syndrome	Telecanthus, Hypertelorism, Micrognathia, Short toe, Genu varum, Clinodactyly of the 5th finger, ...	ORPHA:1777
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Micrognathia, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of finger, Broad me...	OMIM:266920
Hyperekplexia 4	Inguinal hernia, Flexion contracture, Distal arthrogryposis, Talipes equinovarus, Camptodactyly, ...	OMIM:618011
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Facial palsy, Skin ulcer, Congenital localized absence of skin...	ORPHA:1114
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Micrognathia, Missing ribs...	ORPHA:1834
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Sparse scalp hair, Ptosis, Depressed nasal bridge, Anteverted nares, H...	OMIM:615866
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Aplasia/Hypoplasia of the skin, Sparse eyelashes, Abnormal eyelid morphology, ...	ORPHA:1787
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Epicanthus, Depressed nasal bridge, Hypertelorism, Polydactyly, Downslanted palpebral...	OMIM:602501
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of the odontoi...	ORPHA:239
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Hypertelorism, Widow's peak, Small hand, Wide nasal bridge, Upslanted palpebral fissure, Broad fi...	OMIM:614684
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Hypertelorism...	ORPHA:171839
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten...	ORPHA:1856
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormal hair morphology, Abnormality of the humerus, Ab...	ORPHA:3130
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails...	ORPHA:1882
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplastic toenails, Short nose, Depressed nasal bridge, Nail dysplasia	ORPHA:2835
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis, De...	ORPHA:525
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Flexion...	OMIM:613330
Even-Plus Syndrome	Epiphyseal dysplasia, Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, S...	OMIM:616854
Ruvalcaba Syndrome	Ptosis, Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of ...	ORPHA:3121
Kaufman Oculocerebrofacial Syndrome	Epicanthus, Telecanthus, Congenital hip dislocation, Single transverse palmar crease, Long palm, ...	OMIM:244450
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Sacral dimple, Epicanthus, Inguinal hernia, Single transverse palmar crease, Microgn...	OMIM:247200
Fetal Hydantoin Syndrome	Ptosis, Hypoplastic fingernail, Epicanthus, Hypertelorism, Depressed nasal ridge, Low posterior h...	ORPHA:1912
Hypoglossia-Hypodactyly Syndrome	Death in infancy, Telecanthus, Finger syndactyly, Abnormal fingernail morphology, Brachydactyly, ...	ORPHA:989
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Cataract, Highly arched eyebrow, Broad nasal tip, Hypertelorism, Micrognat...	OMIM:620157
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara...	ORPHA:93351
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Acromelic Frontonasal Dysostosis	Syndactyly, Broad nasal tip, Bifid nasal tip, Preaxial polydactyly, Wide nasal bridge, Patellar h...	OMIM:603671
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Trichorrhexis nodosa, Abnormality of the abdominal wal...	ORPHA:238468
Ruvalcaba Syndrome	Inguinal hernia, Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small h...	OMIM:180870
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Hyperconvex nail, Single transverse palmar crease, Wide distal f...	OMIM:269150
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Papule, Abnormality of the nail, Aplasia/H...	ORPHA:129
Oculodentodigital Dysplasia	Dry hair, Microcornea, Joint contracture of the 5th finger, Sparse hair, Anteverted nares, 4-5 fi...	OMIM:164200
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing, Webbed nec...	OMIM:620076
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Anencephaly, Gastroschisis, Spina bifida	ORPHA:2476
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Epicanthus, Inguinal hernia, Congenital hip dislocation, Arachnodactyly,...	ORPHA:536545
Fanconi Anemia, Complementation Group S	Epicanthus, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped...	OMIM:617883
Ohdo Syndrome	Epicanthus, Depressed nasal bridge, Anteverted nares, Blepharophimosis, Sparse eyebrow, Micrognat...	OMIM:249620
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Epicanthus, Telecanthus, Hypoplastic toenails, Upslanted palpebral fissure	OMIM:601927
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Syndactyly, Epicanthus, Telecanthus, Sacral dimple, Micrognathia, Upslanted palpebra...	OMIM:616894
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Epicanthus, Hypoplastic scapulae, Bowing of the legs, Short toe, Br...	OMIM:269860
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Telecanthus, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hyper...	ORPHA:228390
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Hypertelorism, Broad nasal ti...	OMIM:137550
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Epicanthus, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proxima...	ORPHA:261211
Duane-Radial Ray Syndrome	Syndactyly, Epicanthus, Hypoplasia of the ulna, Radial deviation of the hand, Facial palsy, Pes p...	OMIM:607323
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r...	OMIM:613451
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Anteverted nares, Single transverse palmar crease, Highly arched eyebrow, Hypertelori...	OMIM:614701
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Inguinal hernia, Syndactyly, Lacrimal duct stenosis, Mic...	OMIM:151050
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Congenital abnormal hair pattern, Corneal opacity, Tapered finger, Atrichia, ...	ORPHA:1867
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Alopecia, Inguinal hernia, Short metacarpal, Pes planus, Micrognat...	ORPHA:166035
Ulerythema Ophryogenesis	Miscarriage, Erythematous papule, Dermal atrophy, Hyperkeratotic papule, Sparse lateral eyebrow	ORPHA:3406
Osteogenesis Imperfecta, Type I	Otosclerosis, Femoral bowing, Hip dysplasia, Thin skin, Finger joint hypermobility, Dentinogenesi...	OMIM:166200
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Hypertelorism, Cataract, Highly arched eyebrow, Ptosis	OMIM:616154
Bainbridge-Ropers Syndrome	Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Dee...	OMIM:615485
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Pes planus, Arachnodactyly, Sandal gap, Congenital diaphragmatic h...	OMIM:617602
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Classical-Like Ehlers-Danlos Syndrome Type 2	Widened atrophic scar, Micrognathia, Equinus calcaneus, Knee dislocation, Shoulder dislocation, A...	ORPHA:536532
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Hypertelorism, Micrognathia, Split hand, Short nose, Convex nasal ...	ORPHA:2145
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Carious teeth, Patchy alopecia, Nail dystrophy, Enamel hypoplasia, Fragi...	OMIM:226650
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer	ORPHA:743
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Inguinal hernia, Arachnodactyly, Abnormal thumb morphology, Thin skin, ...	ORPHA:2719
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Nail dysplasia	OMIM:615704
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Wide nose, Toe syndactyly, Highly arched eyebrow, Hypertelorism, Sho...	ORPHA:2319
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Ptosis, Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finger, Underdeveloped nasal ala...	ORPHA:306542
Donnai-Barrow Syndrome	Omphalocele, Congenital diaphragmatic hernia, Wide anterior fontanel, Umbilical hernia, Short ste...	OMIM:222448
Diamond-Blackfan Anemia 21	Unilateral ptosis, Pes planus, Hallux valgus, Sandal gap, Micrognathia, Tapered finger, Preaxial ...	OMIM:620072
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopath...	OMIM:305600
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Cataract, Broad hallux, Wide nasal ridge, Downslanted palpebral fissures, Broad thumb	ORPHA:3433
Limited Cutaneous Systemic Sclerosis	Foot joint contracture, Hypopigmented skin patches, Skin ulcer, Narrow foramen obturatorium, Join...	ORPHA:220402
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Epicanthus, Anteverted nares, Down-sloping shoulders, Deviation of the 5th toe, Microg...	ORPHA:391408
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the skin, Abnormality of thumb phalanx, ...	ORPHA:1553
Orofacial Cleft 15	Agenesis of lateral incisor, Epicanthus, Sparse eyelashes, Single transverse palmar crease, Hyper...	OMIM:616788
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of proximal phalanges...	OMIM:300863
Lambotte Syndrome	Telecanthus, Hypertelorism, Preaxial foot polydactyly, Ocular anterior segment dysgenesis, Retrog...	OMIM:245552
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Wide nose, Anteverted nares, Hypertelorism, Hypoplasia of the zygomatic bone, Clinodactyly of the...	ORPHA:3074
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Nail dysplasia, Sp...	OMIM:104100
Codas Syndrome	Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ...	OMIM:600373
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Tapered toe, Sparse eyelashes, Tapered finger, Hypop...	ORPHA:544488
Cronkhite-Canada Syndrome	Alopecia, Cataract, Abnormal fingernail morphology, Tapered finger, Hypoplastic toenails, Dystrop...	ORPHA:2930
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sparse scalp hair, Death in infancy, Epicanthus, Sparse eyelashes, Depressed nasal bridge, Natal ...	OMIM:616901
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic il...	ORPHA:96334
Marshall Syndrome	Micrognathia, Clinodactyly of the 5th finger, Small proximal tibial epiphyses, Radial bowing, Dep...	OMIM:154780
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Hypertelorism, Wide nasal bridge, F...	OMIM:607131
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Epicanthus, Cataract, Overlapping toe, Hypertelorism, Bulbous nose, Wide nasal...	OMIM:618571
Gorlin Syndrome	Mandibular prognathia, Epicanthus, Cataract, Arachnodactyly, Telecanthus, Hypertelorism, Palmar p...	ORPHA:377
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Tapered finger, Hypertelorism, Micrognathia, Synophrys, Wide nasal bridge, Fine hair, Upslanted p...	OMIM:620250
Baraitser-Winter Syndrome 1	Epicanthus, Anteverted nares, Highly arched eyebrow, Hypertelorism, Duplication of phalanx of hal...	OMIM:243310
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hyperconvex nail, Prominent nasal bridge, Tapered finger, Bulbous nose, Interphalangeal thumb joi...	OMIM:613870
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Recurrent upper respiratory ...	OMIM:614069
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Short nose, Depressed nasal bridge, Foot polydactyly	ORPHA:210548
Zimmermann-Laband Syndrome	Hallux valgus, Wide nose, Cataract, Telecanthus, Hypertelorism, Micrognathia, Bulbous nose, Super...	ORPHA:3473
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Ptosis, Telecanthus, Depressed nasal bridge, Anteverted nares, Proximal placement of ...	OMIM:217980
Chromosome 5P13 Duplication Syndrome	Epicanthus, Single transverse palmar crease, Blepharophimosis, Hypertelorism, Long fingers, Bulbo...	OMIM:613174
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Inguinal hernia, Small hypothenar eminence, Dermatoglyphic ridges abnormal, Small thenar eminence...	OMIM:211960
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Hypopigmented skin patches, Skin ulcer, Keratoconjunc...	ORPHA:2907
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Depressed nasal bridge, Anteverted nares, Postaxial hand polydactyly, Ups...	ORPHA:75389
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Corneal erosion, Palmoplantar keratoderma, Abnormality of the nail, Ectropion	ORPHA:79394
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Ptosis, Abnormal distal phalanx morphology of finger, Ep...	ORPHA:783
Alkuraya-Kucinskas Syndrome	Cataract, Depressed nasal bridge, Anteverted nares, Overlapping toe, Hypertelorism, Micrognathia,...	OMIM:617822
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Postaxial hand polydactyly	ORPHA:1389
Slc35A2-Cdg	Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus ...	ORPHA:356961
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Supernumerary tooth, Sparse hair, Uncombable hair, Juvenile cataract, Sh...	ORPHA:1264
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Diastasis recti, Lower limb asymmetry, Upper limb asymmetry, Polydactyly, Clinodactyly of the 5th...	ORPHA:231140
Osteoglophonic Dysplasia	Mandibular prognathia, Hypoplastic toenails, Hypoplasia of the maxilla, Short metatarsal, Eruptio...	OMIM:166250
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Thin skin	ORPHA:745
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Highly...	ORPHA:2083
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Epicanthus, Telecanthus, Hypertelorism, Wide nasal bridge, Low posterior h...	ORPHA:1778
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Broad nasal tip, Hypertelorism, Wide nasal bridge, Shortening of all distal phalanges of the fing...	OMIM:615716
Encephalopathy Due To Sulfite Oxidase Deficiency	Deeply set eye, Short nose, Ectopia lentis	ORPHA:833
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, Onychogryposis of toenails, 2-3 toe syndactyly, Long palpebral fissure, Aplasia c...	OMIM:600906
Fg Syndrome 5	Epicanthus, Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, Short nose	OMIM:300581
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Telecanthus, Inguinal hernia, Sparse eyelashes, Toe syndactyly, Sparse axillar...	OMIM:129900
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Unilateral ptosis, Epicanthus, Tapered finger, Bulbous nose, 2-3 toe syndactyly, C...	ORPHA:485405
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly	OMIM:614120
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Epicanthus, Short thumb, Short metacarpal, Cataract	ORPHA:2489
Marshall Syndrome	Cataract, Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Ectopia lentis, Sparse eyeb...	ORPHA:560
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Absent eyel...	ORPHA:69735
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Absent eyelashes, Sp...	OMIM:275210
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Micrognathia, Coxa valga, Webbed neck, Blepharophi...	ORPHA:254519
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia, Palmoplantar blistering	OMIM:226735
Trisomy 18	Omphalocele, Microretrognathia, Epicanthus, Camptodactyly of finger, Congenital diaphragmatic her...	ORPHA:3380
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Micromelia, Micrognathia, Bowing of the legs...	OMIM:255800
Acrofrontofacionasal Dysostosis	Ptosis, Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Brushfield spots, Hy...	ORPHA:1784
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Inguinal hernia, Arachnodactyly, Deviation of finger, Bilateral talipes equinovarus, Congenital f...	ORPHA:1154
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Hypertelorism, Depressed nasal r...	OMIM:618774
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Highly arched eyebrow, Hypertelorism, Abnormal toe morphology, A...	OMIM:216100
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial han...	OMIM:241800
Hall-Riggs Syndrome	Metaphyseal dysplasia, Epicanthus, Depressed nasal bridge, Anteverted nares, Prominent nose, Hype...	OMIM:234250
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Death in infancy, Anteverted nares, Highly arched eyebrow, Hypertelorism,...	OMIM:619135
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Deat...	ORPHA:373
Bardet-Biedl Syndrome 9	Syndactyly, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydacty...	OMIM:615986
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Anteverted nares, Prominent nasal bridge, ...	ORPHA:1974
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H...	ORPHA:2872
8P23.1 Duplication Syndrome	Wide nose, Toe syndactyly, Highly arched eyebrow, Hypertelorism, Deeply set eye	ORPHA:251076
W Syndrome	Hypoplasia of the ulna, Telecanthus, Radial bowing, Depressed nasal bridge, Broad nasal tip, Elbo...	ORPHA:2804
Smith-Kingsmore Syndrome	Curly hair, Rhizomelia, Depressed nasal bridge, Hypertelorism, Short proximal phalanx of finger, ...	OMIM:616638
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Epicanthus, Sacral dimple, Arachnodactyly, Aplasia cutis congenita of sc...	ORPHA:280
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Prominent nasal bridge, Underdeveloped nasal alae, Hypertelorism, A...	ORPHA:364577
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Sandal gap, Broad hallux, Persistence of primary teeth, Scarring alopecia of scalp, Uni...	OMIM:618727
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes	ORPHA:3363
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Postaxial hand polydactyly, Foot polydactyly	ORPHA:2155
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Upslanted palpebral fissure, Deep...	ORPHA:496790
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Distichiasis, Micrognathia	ORPHA:2598
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Ptosis, Anteverted nares, Single transverse ...	OMIM:305400
Orofaciodigital Syndrome Xvii	Prominent nose, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Cen...	OMIM:617926
Keratoderma Hereditarium Mutilans	Autoamputation of digits, Alopecia, Honeycomb palmoplantar hyperkeratosis, Abnormal toenail morph...	ORPHA:494
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Epicanthus, Telecanthus, Anteverted nares, Overlapping toe, Hypertelorism, W...	OMIM:619383
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu...	ORPHA:2256
Marshall-Smith Syndrome	Slender long bone, Bowing of the long bones, Generalized hirsutism, Thin skin	ORPHA:561
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Hypertelorism, Long nose, Bilateral ptosis, Shallow orbits, Duplicat...	OMIM:180750
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Telecanthus, Arachnodactyly, Hypertelorism, Bilateral talipes equinovarus, Talipes equinovarus, C...	OMIM:615539
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Anteverted nares, Slender long bone, Coarse hair, Proptosis, Cubitus valgus, Short no...	ORPHA:1185
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypertelorism, Long fingers, Hypoplasia of the maxilla, Low anterior hairline, Wi...	OMIM:218000
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, Deeply set eye, Prominent ...	OMIM:300558
Isolated Anencephaly	Omphalocele, Congenital diaphragmatic hernia	ORPHA:563609
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Enlarged interphalangeal joints, Proximal placement of thumb, Highly arched eyebrow, Hyperteloris...	ORPHA:2988
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Micrognathia, Shallow orbits, Short nose, Downslanted palpebral fissures	ORPHA:1129
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Prominent nasal bridge, Highly arched eyebrow, Broad nasal tip...	ORPHA:2754
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin, Micrognathia, Ptosis	ORPHA:1214
Linear Skin Defects With Multiple Congenital Anomalies 2	Sandal gap, Highly arched eyebrow, Hypertelorism, Nail dystrophy, Short nose	OMIM:300887
Classic Mycosis Fungoides	Alopecia, Abnormal eyelid morphology, Hypopigmented skin patches, Skin ulcer, Skin plaque, Abnorm...	ORPHA:2584
Gapo Syndrome	Keratoconus, Alopecia, Epicanthus, Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Hy...	OMIM:230740
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Alopecia, Brittle hair, Narrow nasal ridge, Micrognathia, Hypoplasia of...	OMIM:608612
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Wide nose, Cataract, Hypertelorism, Congenital ptosis, Flared nostrils, Premature graying of hair...	ORPHA:280679
Joubert Syndrome 37	Wide nose, Anteverted nares, Postaxial polydactyly, Hypertelorism, Wide nasal bridge, Deeply set ...	OMIM:619185
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Short fourth metatarsal, Short fifth metatarsal, Clinodactyly of the 5th toe, 2-3 toe s...	OMIM:261990
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Pes planus, Epicanthus, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protrusio ac...	OMIM:225400
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Scarring	ORPHA:346
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Microcephaly-Capillary Malformation Syndrome	Ptosis, Wide nose, Hypertelorism, Hypoplasia of the maxilla, Abnormal hair whorl, Small nail, Cli...	OMIM:614261
Alg9-Cdg	Micrognathia, Narrow greater sciatic notch, Shallow orbits, Aplasia cutis congenita of scalp, Mic...	ORPHA:79328
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract, Micromelia	OMIM:273680
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,...	ORPHA:163966
Kniest Dysplasia	Hip contracture, Inguinal hernia, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossif...	OMIM:156550
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M...	OMIM:227270
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Ptosis, Hypertelorism, Wide nasal bridge...	ORPHA:710
Temtamy Syndrome	Highly arched eyebrow, Lens luxation, Ectopia lentis, Hypertelorism, Micrognathia, Hip dislocatio...	OMIM:218340
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly of finger, Hypertelorism, Femora...	ORPHA:83
Poikiloderma With Neutropenia	Depressed nasal bridge, Underdeveloped nasal alae, Sparse eyebrow, Hypertelorism, Micrognathia, C...	OMIM:604173
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ma...	OMIM:616367
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Long hallux, Tapered finger	OMIM:619854
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Tarsal synostosis, Abnormality of the hand, Abnormality of the wr...	ORPHA:1657
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormal eyelid morphology, Hypertelorism, Hypoplasia of the maxilla, Low anterior ...	ORPHA:2095
Acrocallosal Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Wide anterior fontanel, Postaxial hand polydact...	ORPHA:36
Gapo Syndrome	Keratoconus, Mandibular prognathia, Alopecia, Delayed eruption of teeth, Depressed nasal bridge, ...	ORPHA:2067
Acrocraniofacial Dysostosis	Micrognathia, Triphalangeal thumb, Advanced eruption of teeth, Abnormal toenail morphology, Antev...	ORPHA:949
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Alopecia, Ulnar deviation of the ha...	OMIM:612079
Mohr Syndrome	Syndactyly, Depressed nasal bridge, Broad nasal tip, Bifid nasal tip, Preaxial hand polydactyly, ...	OMIM:252100
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Short nose, Camptodactyly of finger, Micrognathia	ORPHA:1495
Lymphedema-Hypoparathyroidism Syndrome	Ptosis, Brachydactyly, Cataract, Telecanthus, Wide nasal bridge, Increased carrying angle, Hypert...	OMIM:247410
Carpenter Syndrome 2	Single transverse palmar crease, Ectropion of lower eyelids, Low anterior hairline, Preaxial poly...	OMIM:614976
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Cataract, Depressed nasal bridge, Coxa valga, Hypertelorism, Micro...	OMIM:619833
Myhre Syndrome	Inguinal hernia, Brachydactyly, Femoral hernia, Large iliac wing, Skeletal muscle hypertrophy, Ab...	ORPHA:2588
Lowry-Maclean Syndrome	Corneal opacity, Choanal atresia, Single transverse palmar crease, Micrognathia, Hypoplasia of th...	ORPHA:2409
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Palmoplantar hyperhidrosis, Palmar...	OMIM:150400
Orofaciodigital Syndrome Type 2	Finger syndactyly, Telecanthus, Broad hallux, Thick hair, Micrognathia, Short tibia, Adactyly, Br...	ORPHA:2751
Moebius Syndrome	Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed nasal bridge, Epicanthus, H...	OMIM:157900
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Epicanthus, Inguinal hernia, Supernumerary nipple, Highly arched eyebrow, Congenital...	OMIM:618454
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Epicanthus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short r...	OMIM:607143
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Metaphyseal sclerosis, Fine hair, Premature graying of hair, Genu valgu...	OMIM:612199
Martsolf Syndrome 2	Cataract, Overlapping toe, Camptodactyly of finger, Broad nasal tip, Developmental cataract, Camp...	OMIM:619420
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi...	OMIM:210710
Fetal Trimethadione Syndrome	Epicanthus, Depressed nasal bridge, Bilateral single transverse palmar creases, Micrognathia, Syn...	ORPHA:1913
Congenital Disorder Of Glycosylation, Type 2V	Ptosis, Epicanthus, Underdeveloped nasal alae, Hypertelorism, Bulbous nose, Wide nasal bridge, Lo...	OMIM:619493
Meckel Syndrome, Type 10	Epicanthus, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Posta...	OMIM:614175
Dermotrichic Syndrome	Short nose, Depressed nasal bridge, Nail dystrophy, Hyperconvex toenail	ORPHA:99688
Leopard Syndrome 2	Mandibular prognathia, Curly hair, Epicanthus, Depressed nasal bridge, Hypertelorism, Cubitus val...	OMIM:611554
Polysyndactyly With Cardiac Malformation	Syndactyly, Anteverted nares, Hypertelorism, Preaxial hand polydactyly, Duplication of phalanx of...	OMIM:263630
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Hypertelorism, Choanal stenosis, Talip...	OMIM:619859
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract, Abnormal distal phalanx morphology of finger, Depressed nasal bridge, Abnormality of th...	ORPHA:1387
Lipoid Proteinosis Of Urbach And Wiethe	Scarring, Patchy alopecia, Skin erosion, Skin plaque, Papule	OMIM:247100
Autosomal Recessive Robinow Syndrome	Micrognathia, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Synosto...	ORPHA:1507
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cataract, Depressed nasal bridge, Rocker bottom foot, Megalocornea, Tapered finger, Hypertelorism...	OMIM:601353
Geroderma Osteodysplastica	Pes planus, Talipes, Hip dislocation, Abnormal epiphysis morphology, Thin skin, Hernia	ORPHA:2078
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Hyperte...	OMIM:605282
Dislocation Of The Hip-Dysmorphism Syndrome	Epicanthus, Congenital hip dislocation, Anteverted nares, Prominence of the premaxilla, Hypertelo...	ORPHA:2412
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Incr...	ORPHA:457395
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Abnormal hair pattern, Carious teeth, Small ...	ORPHA:1786
Monosomy 18P	Alopecia, Brachydactyly, Epicanthus, Micrognathia, Carious teeth, Wide nasal bridge, Low posterio...	ORPHA:1598
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Preauricular pit, Curly hair, Ptosis, Epicanthus, Slow-growing hair, Lacrimal duct stenosis, High...	OMIM:617506
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Long toe, Epicanthus, Depressed nasal bridge, Hyperopic astigmatism, Broad nasal tip, Hypertelori...	ORPHA:363686
Marshall-Smith Syndrome	Brittle hair, Synophrys, Distal widening of metacarpals, Coxa vara, Death in childhood, Shallow o...	OMIM:602535
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Ectropion	OMIM:242510
Orofaciodigital Syndrome Xix	Epicanthus, Toe syndactyly, Broad hallux, Type A brachydactyly, Underdeveloped nasal alae, Bifid ...	OMIM:620107
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Multiple pterygia, Abnormal eyelid morphology, Micrognathia, Symphalangi...	ORPHA:2990
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Prominent n...	OMIM:137940
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Smith-Magenis Syndrome	Mandibular prognathia, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Delayed eruption...	ORPHA:819
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Nephronophthisis 15	Polydactyly	OMIM:614845
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Microgn...	OMIM:154400
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose, Wide nasal bridge, Short ...	OMIM:620292
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyl...	ORPHA:3107
Ehlers-Danlos Syndrome, Classic-Like, 2	Ventral hernia, Hallux valgus, Inguinal hernia, Pes planus, Micrognathia, Bilateral ptosis, Squar...	OMIM:618000
Manitoba Oculotrichoanal Syndrome	Omphalocele, Nasolacrimal duct obstruction, Eyelid coloboma, Cryptophthalmos, Abnormality of the ...	OMIM:248450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Highly arched eyebrow, Abnormal ...	ORPHA:404440
Steel Syndrome	Carpal synostosis, Anteverted nares, Hypertelorism, Hip dislocation, Wide nasal bridge, Coxa vara...	OMIM:615155
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Cataract, Prominent nasal bridge, Rocker bottom foot, Prominent nose, ...	OMIM:214150
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly, Cataract	OMIM:183800
Tetrasomy 5P	Epicanthus, Anteverted nares, Overlapping toe, Short hallux, Hypertelorism, Micrognathia, Long fi...	ORPHA:3309
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Hypoplasia of the max...	OMIM:106260
Frias Syndrome	Hypertelorism, Micrognathia, Proptosis, Downslanted palpebral fissures, Ptosis	OMIM:609640
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Preauricular pit, Finger syndactyly, Brachydactyly, Highly arched eyebrow, Widow's p...	ORPHA:1519
Facial Paresis, Hereditary Congenital, 3	Unilateral ptosis, Epicanthus, Depressed nasal bridge, Anteverted nares, Lagophthalmos, Micrognat...	OMIM:614744
Stromme Syndrome	Cataract, Prominent nasal bridge, Sclerocornea, Hypertelorism, Micrognathia, Preaxial polydactyly...	OMIM:243605
Trisomy 9P	Hypoplastic fingernail, Bilateral single transverse palmar creases, Hypertelorism, Abnormal nasal...	ORPHA:236
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin	ORPHA:735
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Flexion contracture, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Spars...	OMIM:242300
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Coarse hair, Sparse hair, Clinodactyly of the 5th finger, Finger synd...	ORPHA:2750
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hallux valgus, Torticollis, Multiple joint contractures, Arachnodactyly, Bowing of the long bones...	ORPHA:536467
Combined Oxidative Phosphorylation Deficiency 31	Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia, Bulbous nose, Deeply set eye	OMIM:617228
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Micrognathia, ...	ORPHA:56305
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Deeply set eye, Depr...	OMIM:613458
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Bulbous nose, Synophrys, Deeply set eye, Astigmatism, Sh...	ORPHA:284169
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Wide nose, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, U...	ORPHA:284160
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Ptosis, Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, Epica...	OMIM:616723
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Astigmatism, Adva...	OMIM:614753
Helsmoortel-Van Der Aa Syndrome	Ectropion of lower eyelids, Eyelid coloboma, Short 4th toe, Prominent fingertip pads, Clinodactyl...	OMIM:615873
Adams-Oliver Syndrome	Finger syndactyly, Alopecia, Aplasia/Hypoplasia of the skin, Brachydactyly, Talipes, Abnormality ...	ORPHA:974
Schinzel-Giedion Syndrome	Inguinal hernia, Overlapping fingers, Overlapping toe, Micrognathia, Wide anterior fontanel, Gene...	ORPHA:798
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Tapered finger, Broad nasal tip, Hypertelorism, Recurrent upper respirator...	ORPHA:284180
Pentalogy Of Cantrell	Omphalocele, Talipes, Congenital diaphragmatic hernia, Abnormal tibia morphology, Split hand, Apl...	ORPHA:1335
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Cataract, Hypertelorism, Abnormal hand morphology, Small hand, Premature graying of ha...	OMIM:300845
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Epicanthus, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia...	OMIM:614091
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Cataract, Prominent nasal bridge, Highly arched eyebrow, Ectopia lenti...	ORPHA:2712
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Deeply set eye, Wrist flexion contracture, Ulnar deviation of the hand or ...	OMIM:193700
Prolidase Deficiency	Depressed nasal bridge, Hypertelorism, Micrognathia, Low posterior hairline, Concave nasal ridge,...	OMIM:170100
C Syndrome	Omphalocele, Death in infancy, Epicanthus, Sacral dimple, Toe syndactyly, Talipes, Abnormal hair ...	ORPHA:1308
Adams-Oliver Syndrome 5	Syndactyly, Inguinal hernia, Brachydactyly, Hypoplastic toenails, Umbilical hernia, Right ventric...	OMIM:616028
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Short metacarpal, Radial bowing, D...	OMIM:108720
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Ptosis, Thick eyebrow, Congenital hip dislocation, Depressed nasal bridge,...	OMIM:616007
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Generalized amyotrophy, Genu varum, Long toe, Absent eyebrow, ...	OMIM:264090
Cloacal Exstrophy	Omphalocele, Abnormal tibia morphology, Hip dislocation, Absent foot, Abnormal fibula morphology,...	ORPHA:93929
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Umbilical hernia, Diastasis recti	ORPHA:254534
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Classical-Like Ehlers-Danlos Syndrome Type 1	Skeletal muscle atrophy, Thin skin	ORPHA:230839
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Telecanthus, Epicanthus, Inguinal hernia, Abnormal eyelash morphology, Low pos...	ORPHA:1252
Bresek Syndrome	Alopecia, Convex nasal ridge, Postaxial hand polydactyly, Neonatal death, Iris coloboma	ORPHA:85284
Triploidy	Omphalocele, Macroglossia, Finger syndactyly, Micrognathia	ORPHA:3376
Ruijs-Aalfs Syndrome	Cataract, Down-sloping shoulders, Single transverse palmar crease, Prominent nasal bridge, Microg...	OMIM:616200
Hogue-Janssen Syndrome 2	Broad hallux, Anteverted nares, Postaxial polydactyly, Hypertelorism, Abnormal hair whorl, Hip dy...	OMIM:616362
Warburg Micro Syndrome 2	Cataract, Overlapping toe, Prominent nasal bridge, Low anterior hairline, Developmental cataract,...	OMIM:614225
Mosaic Variegated Aneuploidy Syndrome 2	Epicanthus, Depressed nasal bridge, Single transverse palmar crease, Rhizomelia, Blepharophimosis...	OMIM:614114
Achondrogenesis, Type Ib	Inguinal hernia, Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Umbilical hernia	OMIM:600972
Hartsfield Syndrome	Telecanthus, Depressed nasal bridge, Hypertelorism, Split hand, Aplasia/Hypoplasia of the radius,...	ORPHA:2117
Difference Of Sex Development-Intellectual Disability Syndrome	Abnormal hair pattern, Synophrys, Genu valgum, Low posterior hairline, Short nose	ORPHA:2983
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Aplasia cutis congenita, Flexion contracture	OMIM:612138
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Alopecia, Short hallux, Metaphyseal widening, Abn...	OMIM:135100
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Depressed nasal bridge, Anteverted nares, Hypertelorism, Micrognathia, Partial dup...	OMIM:616331
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Warburg Micro Syndrome 3	Cataract, Blepharophimosis, Micrognathia, Low anterior hairline, Developmental cataract, Microcor...	OMIM:614222
20Q11.2 Microduplication Syndrome	Epicanthus, Depressed nasal bridge, Anteverted nares, Palpebral edema, Wide nasal bridge, Short f...	ORPHA:363659
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Luo-Schoch-Yamamoto Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Hypertelorism, Almond...	OMIM:619460
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Iliac crest se...	OMIM:613320
Distal Deletion 10Q	Single transverse palmar crease, Prominent nose, Hypoplastic toenails, Micrognathia, 2-3 toe cuta...	ORPHA:96148
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Depressed nasal bridge, Sparse eyelashes, Abnormal hair pattern, Hypertelorism, Sparse ...	ORPHA:35173
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Kahrizi Syndrome	Bulbous nose, Cataract, Iris coloboma, Wide nasal bridge	OMIM:612713
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Preauricular pit, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Microg...	OMIM:602471
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Alopecia, Sparse eyelashes, Sparse eyebrow, Palmoplantar hyperkeratosis...	OMIM:605676
Neonatal Adrenoleukodystrophy	Ptosis, Cataract, Anteverted nares, Wide anterior fontanel, Wide nasal bridge, Bilateral single t...	ORPHA:44
Distal Duplication 5Q	Hypoplasia of the ulna, Epicanthus, Prominent nasal bridge, Absent thumb, Hypertelorism, Microgna...	ORPHA:96097
Colonic Atresia	Omphalocele, Gastroschisis	ORPHA:1198
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Hypertelorism, Wide nasal bridge, Upslanted palpebral fissure, Proptosis, Short...	OMIM:618437
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Upslanted palpebral fissure, Cataract, Dental malocclusion, Underdeveloped nasal alae	OMIM:616108
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Epicanthus, Depressed nasal bridge, Anteverted nares, Proximal placement o...	ORPHA:435638
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cataract, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Hypertelorism, Synophr...	OMIM:619286
Congenital Disorder Of Glycosylation, Type Iu	Death in infancy, Short nose, Micrognathia, Hypotelorism	OMIM:615042
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Epicanthus, Inguinal hernia, Brachydactyly, Hypoplastic toenails, Hypoplastic fifth fingernail, S...	ORPHA:1292
Mandibulofacial Dysostosis, Guion-Almeida Type	Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Proximal placement of thumb, Microgna...	OMIM:610536
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Hyperconvex nail, Highly arched eyebrow, Tapered finger, Broad nasal tip, ...	OMIM:239300
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Epicanthus, Paranasal sinus hypoplasia, Arachnodactyly, Facial palsy, Micrognathia, ...	OMIM:300373
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi...	OMIM:268310
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Craniorachischisis	Omphalocele, Bifid sternum, Congenital diaphragmatic hernia, Sirenomelia	ORPHA:63260
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Acrocephalopolydactylous Dysplasia	Omphalocele, Epicanthus, Micromelia, Postaxial hand polydactyly, Upslanted palpebral fissure	OMIM:200995
Trichothiodystrophy 1, Photosensitive	Death in infancy, Brittle hair, Trichoschisis, Cataract, Trichorrhexis nodosa, Fine hair, Microco...	OMIM:601675
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge, Hypertelorism	OMIM:612563
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of ...	ORPHA:2273
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Omphalocele, Postaxial hand polydactyly, 2-3 toe syndactyly, Upslanted palpebra...	OMIM:264480
Burn-Mckeown Syndrome	Mandibular prognathia, Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Bilate...	OMIM:608572
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Metaphyseal wide...	OMIM:259600
Menke-Hennekam Syndrome 1	Micrognathia, Depressed nasal ridge, Cutaneous syndactyly of toes, Deeply set eye, Sparse hair, C...	OMIM:618332
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Sparse scalp hair, Hypertelorism, Sparse eyebrow, Wide nasal bridge, Iris colo...	ORPHA:66629
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Abnormal hair morphology, Short toe, Palmar hyperlinearity, Palmoplantar ker...	OMIM:242100
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Brachydactyly, Depressed nasal bridge, Anteverted nares, Rhizomelia, Hyper...	OMIM:271510
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Ayme-Gripp Syndrome	Mandibular prognathia, Sparse scalp hair, Ptosis, Depressed nasal bridge, Tapered finger, Hyperte...	OMIM:601088
Atypical Werner Syndrome	Skeletal muscle atrophy, Micrognathia, Abnormal hair whorl, Premature graying of hair, Finger cli...	ORPHA:79474
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Xeroderma Pigmentosum	Conjunctival telangiectasia, Macule, Alopecia, Entropion, Hypermelanotic macule, Hypopigmented sk...	ORPHA:910
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair	ORPHA:1839
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Decreased ...	OMIM:612394
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Trisomy 20P	Micrognathia, Low anterior hairline, Coarse hair, Hernia, Finger syndactyly, Highly arched eyebro...	ORPHA:261318
Meckel Syndrome, Type 8	Polydactyly, Short nose, Depressed nasal ridge, Talipes equinovarus	OMIM:613885
Al-Raqad Syndrome	Deeply set eye, Short nose, Sandal gap, Brachydactyly	OMIM:616459
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Arachnodactyly, Hyperconvex nail, Postaxial polydactyly, Tapered finger, G...	OMIM:619721
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Wide nose, Cataract, Arachnodactyly, Prominent nasal bridge, Broad hallux, Prominen...	OMIM:601552
Bathing Suit Ichthyosis	Alopecia, Multiple joint contractures, Autoamputation of digits, Palmoplantar hyperkeratosis, Nai...	ORPHA:100976
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Epicanthus, Bowing of the legs, Subperiosteal bone ...	OMIM:277440
Distal Deletion 6P	Wide nose, Posterior embryotoxon, Depressed nasal bridge, Anteverted nares, Corneal opacity, Unde...	ORPHA:96125
Fryns Syndrome	Omphalocele, Prominent fingertip pads, Microretrognathia, Rocker bottom foot, Proximal placement ...	OMIM:229850
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Hypertelorism, Upper eyelid coloboma...	OMIM:613456
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Ptosis, Telecanthus, Depressed nasal bridge, Anteverted nares, Micrognathia, Polydactyly, Short n...	ORPHA:314655
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Aplas...	ORPHA:887
Baker-Gordon Syndrome	Epicanthus, Prominent nasal tip, Short nose	OMIM:618218
Saul-Wilson Syndrome	Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metac...	OMIM:618150
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Blepharophimosis, Hypoplastic ilia...	ORPHA:93333
Laurence-Moon Syndrome	Finger syndactyly, Epicanthus, Cataract, Bilateral single transverse palmar creases, Hand polydac...	ORPHA:2377
Stickler Syndrome, Type Ii	Cataract, Arachnodactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Long fingers	OMIM:604841
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hyperkeratosis, P...	OMIM:300918
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul...	ORPHA:166011
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Cataract, Depressed nasal bridge, Short metatarsal, ...	OMIM:612463
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand	ORPHA:2547
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nail dystrophy, ...	OMIM:226600
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Sandal gap, Highly arched eyebrow, Prominent nose, Hypertelorism, Microgna...	OMIM:156200
Tetrasomy 18P	Large hands, Epicanthus, Short nose, Downslanted palpebral fissures	ORPHA:3307
Hypermobile Ehlers-Danlos Syndrome	Pes planus, Epicanthus, Inguinal hernia, Elbow dislocation, Abnormal foot morphology, Genital her...	ORPHA:285
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Inguinal hernia, Micrognathia, Short 5th finger, Polydactyly, Ectrodactyly, Clinodact...	ORPHA:397590
Caudal Duplication	Omphalocele	ORPHA:1756
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Hypertelorism, Wide anterior ...	OMIM:300963
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele, Telecanthus, Abnormal eyelash morphology, Webbed neck, Downslanted palpebral fissure...	ORPHA:3164
Kosaki Overgrowth Syndrome	Xanthelasma, Thin skin, Long foot, Downslanted palpebral fissures, Ptosis	OMIM:616592
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Ptosis, Hypoplastic fingernail, Cataract, Anteverted nares, Epicanthus, Hypertelorism, Hypoplasti...	OMIM:220500
Weiss-Kruszka Syndrome	Ptosis, Epicanthus, Anteverted nares, Single transverse palmar crease, Proximal placement of thum...	OMIM:618619
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of the subungual region, Skin erosion, Atrophic scars, Palmoplantar keratoderma, Nail...	ORPHA:79411
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Cataract, Depressed nasal bridge, Choanal atresia, Postaxial polydactyly, Prominent nose, Tapered...	OMIM:300968
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares...	ORPHA:50945
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Convex nasal ridge, Micrognathia, Tibial bowing, Deeply set eye, Clinodactyly of the 5th finger, ...	ORPHA:251028
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Sparse scalp hair, Alopecia, Loss of subcutaneous adipose tissue in limbs, Lipodystro...	OMIM:248370
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Anteverted nares, Blepharophimosis, Abnormal conjunctiva morphology, Eye...	ORPHA:3339
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Depr...	OMIM:180700
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Hypertelorism, Meta...	OMIM:227330
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Skeletal muscle hypertrophy, Genu valgum, Short ...	ORPHA:314795
Craniometaphyseal Dysplasia	Telecanthus, Depressed nasal bridge, Hypertelorism, Wide nasal bridge, Abnormal metaphysis morpho...	ORPHA:1522
Lacrimoauriculodentodigital Syndrome 1	Preaxial polydactyly, Radial deviation of the 3rd finger, Conjunctivitis, Triphalangeal thumb, Cl...	OMIM:149730
Menkes Disease	Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Death in childhood, Sparse hair	OMIM:309400
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Upsl...	ORPHA:79113
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad hallux, Broad nasal tip, Hypertelorism, Wide nasal bridge, Shortening of all distal phalang...	OMIM:614749
Anophthalmia Plus Syndrome	Choanal atresia, Hypertelorism, Abnormal nasal morphology, Deviation of finger, Eyelid coloboma, ...	ORPHA:1104
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Death in infa...	OMIM:308205
White-Kernohan Syndrome	Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Syn...	OMIM:619426
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Hypertelorism, Metaphyseal widening, Flared metaphysis, Nasal congestion, ...	OMIM:123000
Toluene Embryopathy	Epicanthus, Micrognathia, Tapered finger, Hypoplasia of the zygomatic bone, Short nose, Short pal...	ORPHA:1920
Distal Deletion 9P	Epicanthus, Hypertelorism, Wide nasal bridge, Upslanted palpebral fissure, Proptosis, Short nose,...	ORPHA:1642
Tarp Syndrome	Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hyp...	OMIM:311900
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Epicanthus, Promi...	ORPHA:1225
2Q31.1 Microdeletion Syndrome	Micrognathia, Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, ...	ORPHA:251014
3C Syndrome	Finger syndactyly, Hypoplastic fingernail, Death in infancy, Depressed nasal bridge, Hyperteloris...	ORPHA:7
Joubert Syndrome 23	Polydactyly	OMIM:616490
Pachyonychia Congenita	Alopecia, Epidermoid cyst, Palmoplantar blistering, Paronychia, Onychogryposis of toenails, Palmo...	ORPHA:2309
Nicolaides-Baraitser Syndrome	Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int...	OMIM:601358
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Telecanthus, Short femur, Anteverted nares, Fractured radius, Decreased fibular diameter, Hyperte...	OMIM:616897
Barber-Say Syndrome	Delayed eruption of teeth, Ablepharon, Telecanthus, Anteverted nares, Hypertelorism, Bulbous nose...	ORPHA:1231
Cone-Rod Dystrophy 16	Cataract, Postaxial polydactyly	OMIM:614500
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Epicanthus, Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Deeply set eye, Cli...	OMIM:618430
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Abnormal epiphysis morphology, Enamel hypoplasia, Downslanted palpebral fissures, Brach...	ORPHA:2643
Hallermann-Streiff Syndrome	Natal tooth, Alopecia, Telecanthus, Sparse eyelashes, Choanal atresia, Underdeveloped nasal alae,...	ORPHA:2108
Scarf Syndrome	Epicanthus, Inguinal hernia, Diastasis recti, Low posterior hairline, Short sternum, Hypoplastic ...	ORPHA:3134
Jaberi-Elahi Syndrome	Brittle hair, Depressed nasal bridge, Sparse eyelashes, Cataract, Sparse eyebrow, Fine hair, Tali...	OMIM:617988
Bardet-Biedl Syndrome 19	Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Hyposmia, Y-shaped...	OMIM:615996
Microlissencephaly-Micromelia Syndrome	Bilateral single transverse palmar creases, Micromelia, Generalized hypertrichosis, Short nose, A...	ORPHA:50810
Distal Deletion 19P	Long toe, Alopecia, Vaginal hernia, Arachnodactyly, Umbilical hernia, Keloids, Thick eyebrow	ORPHA:96129
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Upper limb undergrowth, Short 4th metacarpal, Lower limb hypertonia, P...	OMIM:169400
Braddock Syndrome	Congenital muscular torticollis, Epicanthus, Abnormal hair pattern, Micrognathia, Missing ribs, P...	ORPHA:52047
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Camptodactyly, Neonatal ...	OMIM:610015
Leukodystrophy, Hypomyelinating, 10	Arachnodactyly, Anteverted nares, Bulbous nose, Prominent eyelashes, Upslanted palpebral fissure,...	OMIM:616420
Borjeson-Forssman-Lehmann Syndrome	Cataract, Tapered finger, Blepharophimosis, Short toe, Deeply set eye, Sparse hair, Abnormal hip ...	ORPHA:127
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Hypertelorism, Polydactyly, Complete dupl...	ORPHA:59315
Wiedemann-Steiner Syndrome	Thick eyebrow, Epicanthus, Rhizomelia, Telecanthus, Abnormality of the hand, Tapered finger, Hype...	ORPHA:319182
Prader-Willi Syndrome Due To Translocation	Prominent nose, Micrognathia, Hypotelorism, Deeply set eye, Clinodactyly of the 5th finger, Iris ...	ORPHA:177907
Sweeney-Cox Syndrome	Micrognathia, Low anterior hairline, 2-5 toe syndactyly, Generalized hirsutism, 2-4 finger syndac...	OMIM:617746
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Sandal gap, Short toe, Synophrys, Anterior open-bite malocclusion, Downslanted ...	OMIM:617877
Keutel Syndrome	Wide nose, Alopecia, Depressed nasal bridge, Underdeveloped nasal alae, Recurrent sinusitis, Shor...	ORPHA:85202
Parietal Foramina 2	Depressed nasal bridge, Wide nasal ridge, Hypertelorism	OMIM:609597
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia	ORPHA:95706
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Hypotelorism, Anisocoria, Sparse hair, Clinodactyly of the 5th finger, Iri...	OMIM:181270
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti...	ORPHA:79100
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypertelorism, Micrognathia, Hypoplasia of the ...	OMIM:212780
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Short foot, Talipes equinovarus, Short nose	ORPHA:93298
Hypomelia With Mullerian Duct Anomalies	Postaxial hand polydactyly, Split hand	OMIM:146160
Intellectual Disability-Strabismus Syndrome	Epicanthus, Telecanthus, Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominen...	ORPHA:363528
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Epicanthus, Cataract, Depressed nasal bridge, Anteverted nares, Corneal op...	OMIM:152950
Axenfeld-Rieger Syndrome	Telecanthus, Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Abnormal anterior ...	ORPHA:782
Achondrogenesis Type 1A	Anteverted nares, Micromelia, Short foot, Short palm, Short nose	ORPHA:93299
Chanarin-Dorfman Syndrome	Alopecia, Subcapsular cataract, Ectropion	OMIM:275630
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Chops Syndrome	Curly hair, Cataract, Anteverted nares, Thick hair, Hypertelorism, Synophrys, Coarse hair, Propto...	OMIM:616368
Bruck Syndrome 2	Inguinal hernia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femora...	OMIM:609220
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Short nose, Depressed nasal bridge, Metaphyseal dysplasia	OMIM:614732
Olmsted Syndrome 1	Subungual hyperkeratosis, Autoamputation of digits, Corneal opacity, Palmoplantar keratoderma, Na...	OMIM:614594
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Natal tooth, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Abse...	ORPHA:158687
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Epicanthus, Palpebral edema, Depressed nasal bridge, Bulbous nose, Blephar...	ORPHA:261144
Dahlberg-Borer-Newcomer Syndrome	Short distal phalanx of finger, Cataract, Telecanthus, Wide nasal bridge, Anonychia, Generalized ...	ORPHA:1563
Frontorhiny	Ptosis, Epicanthus, Cataract, Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla, ...	ORPHA:391474
Pai Syndrome	Telecanthus, Nasal polyposis, Depressed nasal bridge, Hypertelorism, Midline defect of the nose, ...	ORPHA:1993
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Cataract, Prominent nasal bridge, Prominent nose, Supern...	ORPHA:627
Cutis Laxa, Autosomal Recessive, Type Iia	Brittle hair, Congenital hip dislocation, Anteverted nares, Abnormality of hair texture, Carious ...	OMIM:219200
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Micrognathia, Hypertelorism, Retrognathia, Short nose, Thick nasal alae	ORPHA:163961
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Dry hair, Alopecia, Epicanthus, Telecanthus, Underdeveloped nasal ...	OMIM:311200
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent nose, Long nose, Micrognathia, Microcornea, Heterochromia iridis, Iris coloboma, Highly...	ORPHA:2995
Cardiofaciocutaneous Syndrome	Brittle hair, Sparse hair, Dystrophic fingernails, Depressed nasal bridge, Anteverted nares, Abno...	ORPHA:1340
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Striae distensae, Thin skin, Hirsutism	OMIM:219090
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Bladder Exstrophy	Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy	ORPHA:93930
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Iris atrophy, Short metacarpal, Ptosis, Long eyebrows, Hypertelorism, Wido...	OMIM:201180
Lathosterolosis	Epicanthus, Toe syndactyly, Anteverted nares, Cataract, Micrognathia, Bulbous nose, Postaxial han...	ORPHA:46059
Hamamy Syndrome	Micrognathia, Sparse hair, Clinodactyly of the 5th finger, Abnormal number of hair whorls, Long t...	OMIM:611174
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Hypertelorism, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxia...	OMIM:619143
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ...	ORPHA:2636
19P13.13 Microdeletion Syndrome	Epicanthus, Depressed nasal bridge, Anteverted nares, Sandal gap, Hypertelorism, Long fingers, De...	ORPHA:357001
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ...	OMIM:265000
Acces Syndrome	Sparse scalp hair, Supernumerary nipple, Hip dislocation, Hip dysplasia, Split foot, Ectrodactyly...	OMIM:619959
Distal Duplication 6P	Abnormal hair quantity, Cataract, Prominent nasal bridge, Micrognathia, Abnormal eyelash morpholo...	ORPHA:1745
Pontocerebellar Hypoplasia, Type 10	Highly arched eyebrow, Underdeveloped nasal alae, Tapered finger, Bulbous nose, Synophrys, Wide n...	OMIM:615803
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:607361
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy, Slender long bone, Hip dislocation, Hypoplastic pelvis	ORPHA:2840
Trisomy 17P	Wide nose, Cataract, Tapered finger, Prominent nose, Hypertelorism, Micrognathia, Low posterior h...	ORPHA:261290
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bilateral single transverse palmar creases, Proximal placement of thumb, Congen...	ORPHA:1120
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal fingernail morphology, Blepharophimosis, Hypertelorism, Hyperconv...	ORPHA:3079
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Raine Syndrome	Mandibular prognathia, Death in infancy, Bowing of the long bones, Natal tooth, Depressed nasal b...	OMIM:259775
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Death in infancy, Alopecia, Absent lacrimal punctum, Abnormal hair pat...	ORPHA:2315
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial absence o...	ORPHA:476126
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Thin skin, Striae distensae	OMIM:219080
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Death in infancy, Psoriasiform dermatitis, Death in childhood, Enamel hypoplasia	OMIM:243150
Waardenburg Syndrome, Type 1	Mandibular prognathia, Telecanthus, White eyelashes, White eyebrow, Underdeveloped nasal alae, Hy...	OMIM:193500
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Nail dysplasia, Limb undergrowth, ...	OMIM:619142
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Anteverted nares, Bo...	OMIM:272460
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Prominent nasal bridge, Proximal placement of thumb, Tapered fi...	ORPHA:251071
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Nevus flammeus of the forehead, A...	ORPHA:3320
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Hypertelorism, Sp...	ORPHA:263463
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Synophrys, Low ...	OMIM:213980
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Nail dystrophy, Congenital localized absence of skin	OMIM:132000
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Acromelic Frontonasal Dysplasia	Telecanthus, Midline central nervous system lipomas, Patellar hypoplasia, Dermoid cyst, Talipes e...	ORPHA:1827
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Anteverted nares, Micrognathia, Short nose, Generalized hirsutism, Ptosis	ORPHA:1915
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality o...	ORPHA:3186
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Low ant...	OMIM:180849
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Epiphyseal stippli...	OMIM:302960
Macs Syndrome	Pes planus, Epicanthus, Alopecia, Palpebral edema, Single transverse palmar crease, Micrognathia,...	OMIM:613075
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Epicanthus, Telecanthus, Inguinal hernia, Micrognathia, Wide anterior fontanel, Short toe, Blepha...	OMIM:225410
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anterior hairline, Finger joint...	OMIM:212720
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Downslanted palpebral fissures, Iris coloboma, Hypertelorism	OMIM:155145
Arthrogryposis Multiplex Congenita 6	Death in infancy, Increased variability in muscle fiber diameter, Death in childhood, Neonatal de...	OMIM:619334
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Superficial Epidermolytic Ichthyosis	Palmoplantar keratoderma, Thin skin	ORPHA:455
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Epicanthus, Sclerocornea, Underdeveloped nasal alae, Hype...	OMIM:614230
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar...	OMIM:608940
Joubert Syndrome 16	Polydactyly, Hypertelorism	OMIM:614465
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Micrognathia, Short nose	OMIM:242860
Down Syndrome	Brachydactyly, Cataract, Depressed nasal bridge, Sandal gap, Epicanthus, Depressed nasal ridge, U...	ORPHA:870
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand...	ORPHA:56304
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Curry-Jones Syndrome	Nevus sebaceous, Lip pit, Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syn...	OMIM:601707
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Pes planus, Aplasia/Hypoplasia of the skin, Lipodystrophy, L...	ORPHA:1979
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Cataract, Tapered finger, Hip dysplasia, Finger joint hypermobility, Nail dy...	ORPHA:544503
Peho Syndrome	Epicanthus, Short nose, Retrognathia, Tapered finger	OMIM:260565
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Chromosome 10Q22.3-Q23.2 Deletion Syndrome	Arachnodactyly, Hypertelorism, Upslanted palpebral fissure, Deeply set eye, Breast aplasia	OMIM:612242
Iniencephaly	Omphalocele, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Absent vertebra, Ga...	ORPHA:63259
Fryns Syndrome	Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Clinodactyly of the 5th finger, Short...	ORPHA:2059
Meckel Syndrome, Type 1	Omphalocele, Syndactyly, Bowing of the long bones, Camptodactyly of finger, Talipes, Micrognathia...	OMIM:249000
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Dermal atrophy, Skin ulcer	ORPHA:2047
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Depressed nasal bridge, Hypertelorism, Upslanted palpebral fissure, Epiphyseal ...	OMIM:614862
Hydrolethalus Syndrome 1	Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ...	OMIM:236680
Aniridia-Absent Patella Syndrome	Inguinal hernia, Aplasia/Hypoplasia of the patella, Ptosis	ORPHA:1069
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia...	OMIM:164900
Warburg-Cinotti Syndrome	Epicanthus, Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Osteolytic defect...	OMIM:618175
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Palmoplantar keratoderma, Hypomelan...	OMIM:618373
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Inguinal hernia, Elbow contracture, Multiple pterygia, Tarsal synostosis, Elbow ...	OMIM:178110
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Epicanthus, Tapered finger, Wide nasal bridge, Narrow p...	OMIM:613603
Achondrogenesis	Short nose, Anteverted nares, Micromelia	ORPHA:932
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Br...	OMIM:277170
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ...	OMIM:210720
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Psoriasiform dermatitis, Nail dystrophy, Sparse hair, Alopecia of scalp	ORPHA:436252
Rothmund-Thomson Syndrome Type 2	Long nose, Patellar hypoplasia, Sparse hair, Juvenile cataract, Short phalanx of finger, Genu var...	ORPHA:221016
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypertelorism, Cone-shaped epiphysis, Short foot, Pr...	ORPHA:53271
Jacobsen Syndrome	Microcornea, Eyelid coloboma, Broad columella, Iris coloboma, Long hallux, Broad hallux phalanx, ...	ORPHA:2308
Cerebrofaciothoracic Dysplasia	Wide nose, Epicanthus, Abnormal hair pattern, Hypertelorism, Synophrys, Low posterior hairline, C...	ORPHA:1394
Jacobsen Syndrome	Ptosis, Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Abnorma...	OMIM:147791
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Genu varum, Genu valgum, Abnormal adipose tissue morphology, Abnormal hip bone morpholo...	ORPHA:93160
Limb-Mammary Syndrome	Absent lacrimal punctum, Alopecia, Absent nipple, Chronic irritative conjunctivitis, Psoriasiform...	ORPHA:69085
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Hyperconvex fingernails, Advanced eruption of teeth, Thick nasal alae,...	ORPHA:192
Holoprosencephaly	Omphalocele, Epicanthus, Brachydactyly, Talipes, Highly arched eyebrow, Congenital diaphragmatic ...	ORPHA:2162
Branchio-Oculo-Facial Syndrome	Preauricular pit, Upper lip pit, Preaxial hand polydactyly, Nasolacrimal duct obstruction, Postau...	ORPHA:1297
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Verheij Syndrome	Anteverted nares, Broad nasal tip, Hip dislocation, Wide nasal bridge, Short 5th finger, Clinodac...	OMIM:615583
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Rabin-Pappas Syndrome	Mandibular prognathia, Cataract, Highly arched eyebrow, Broad nasal tip, Hypertelorism, Micrognat...	OMIM:620155
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Depressed nasal bridge, ...	ORPHA:1427
Neu-Laxova Syndrome 2	Finger syndactyly, Ablepharon, Toe syndactyly, Cataract, Rocker bottom foot, Hypertelorism, Micro...	OMIM:616038
Hypomandibular Faciocranial Dysostosis	Death in infancy, Anteverted nares, Upslanted palpebral fissure, Proptosis, Choanal stenosis, Sho...	ORPHA:1790
Opitz Gbbb Syndrome	Omphalocele, Preauricular pit, Inguinal hernia, Telecanthus, Congenital diaphragmatic hernia, Mic...	ORPHA:2745
3Mc Syndrome	Ptosis, Telecanthus, Highly arched eyebrow, Supernumerary nipple, Abnormal nasal morphology, Blep...	ORPHA:293843
Ifap Syndrome 2	Cataract, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia,...	OMIM:619016
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Cranioectodermal Dysplasia 3	Telecanthus, Rhizomelia, Sandal gap, Postaxial polydactyly, Short nail, 2-4 toe syndactyly, Micro...	OMIM:614099
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ...	OMIM:187600
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Cataract, Micromelia, Micrognathia, Wide nasal bridge, Short long bone,...	OMIM:224410
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus, Limb hypertonia	OMIM:620306
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Sparse hair, Clinodactyly of the 5th finge...	OMIM:115150
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Prominent nose, Short metatarsal, Deeply set eye, Sparse hair, Short metac...	OMIM:614813
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly, Pes cavus, Downslanted palpebral fissures	ORPHA:163681
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Single transverse palmar crease, Hypertelorism, Metatarsus...	OMIM:214110
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Micrognathia, Myopic astigmatism, Long eyelashes, Short nose	OMIM:617802
Cerebrooculonasal Syndrome	Epicanthus, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial polydactyly, Sparse ey...	OMIM:605627
Monosomy 9P	Epicanthus, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Choanal atresi...	ORPHA:261112
Gm1 Gangliosidosis	Inguinal hernia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, M...	ORPHA:354
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Unilateral ptosis, Synophrys, Low anterior hairline, Hypotelorism, Deeply set eye, Anteverted nar...	OMIM:301044
Adnp Syndrome	Single transverse palmar crease, Abnormal finger morphology, Advanced eruption of teeth, Juvenile...	ORPHA:404448
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Congeni...	OMIM:601803
Otodental Syndrome	Delayed eruption of teeth, Cataract, Anteverted nares, Abnormal dental enamel morphology, Carious...	ORPHA:2791
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Synostosis of carpal bones...	ORPHA:221120
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Death in infancy, Aplasia cutis congenita on trunk or limbs, Atrophic scars, Nail dystrophy, Nail...	OMIM:226730
Aymé-Gripp Syndrome	Sparse scalp hair, Cataract, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Hypertel...	ORPHA:1272
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ...	ORPHA:3437
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Epicanthus, Absent nipple, Toe syndactyly, Hypoplastic scapulae, Congenit...	OMIM:200980
Frontometaphyseal Dysplasia 1	Limited elbow movement, Increased density of long bone diaphyses, Antegonial notching of mandible...	OMIM:305620
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Nail dystrophy, Thin skin, Ptosis	OMIM:615895
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Hypertelorism, Prominent eyelashes, Wide nasal bridge, Upslanted palpebra...	OMIM:619179
Faciocardiomelic Syndrome	Telecanthus, Depressed nasal bridge, Anteverted nares, Micrognathia, Dental malocclusion, Hyperpl...	OMIM:612731
Joubert Syndrome 7	Ptosis, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Short metatarsal, Tibial bowing, Tarsometatarsal synostosis, Short phal...	OMIM:600383
Harlequin Ichthyosis	Cataract, Depressed nasal ridge, Hand polydactyly, Foot polydactyly, Ectropion	ORPHA:457
Short Stature-Micrognathia Syndrome	Cataract, Rhizomelia, Bowing of the legs, Coxa valga, Micrognathia, Metaphyseal widening, 2-3 toe...	OMIM:617164
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,...	ORPHA:958
Diaphanospondylodysostosis	Epicanthus, Depressed nasal bridge, Hypertelorism, Micrognathia, Depressed nasal ridge, Narrow pe...	OMIM:608022
Kinsship Syndrome	Mandibular prognathia, Death in infancy, Single transverse palmar crease, Coxa valga, Hypertelori...	OMIM:619297
Scarf Syndrome	Epicanthus, Inguinal hernia, Diastasis recti, Low anterior hairline, Low posterior hairline, Shor...	OMIM:312830
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Ptosis, Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Epicanthus, Br...	OMIM:617157
Huriez Syndrome	Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small nail, Palmoplantar keratoderma	ORPHA:384
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes equinovarus, Camptodactyly	OMIM:614815
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Clinodactyly, Hypotelorism, Deeply set eye, Depressed nasal bridge, Tapered finger,...	OMIM:309590
Eiken Syndrome	Broad femoral neck, Hypertelorism, Persistence of primary teeth, Delayed epiphyseal ossification,...	OMIM:600002
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Clubbing, Clubbing of fingers, Nail dystrophy, Nail dysplasia	OMIM:175500
Carey-Fineman-Ziter Syndrome	Ptosis, Epicanthus, Anteverted nares, Micrognathia, Aplasia of the pectoralis major muscle, Ulnar...	ORPHA:1358
Trisomy 8P	Short fourth metatarsal, Single transverse palmar crease, Clinodactyly of the 5th finger, Heteroc...	ORPHA:264450
Acro-Renal-Ocular Syndrome	Microcornea, Triphalangeal thumb, Iris coloboma, Hypoplasia of the ulna, Finger syndactyly, Broad...	ORPHA:959
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Depressed nasal...	ORPHA:794
Mend Syndrome	Microretrognathia, Cataract, Broad hallux, Prominent nasal bridge, Overlapping toe, Micrognathia,...	OMIM:300960
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Epicanthus, Abnormal distal phalanx morphology of finger, Prominent nasal ...	ORPHA:2673
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of...	ORPHA:2269
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Epicanthus, Telecanthus, Palmoplantar hyp...	OMIM:615280
Acrocallosal Syndrome	Mandibular prognathia, Clinodactyly of the 5th finger, Microretrognathia, Finger syndactyly, Tape...	OMIM:200990
Okamoto Syndrome	Omphalocele, Talipes, Extension of hair growth on temples to lateral eyebrow, Hypertrichosis, Hip...	ORPHA:2729
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Short middle phala...	OMIM:119600
Duane Retraction Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Patchy hypopigmentation of hair, Brachy...	ORPHA:233
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Highly arched eyebrow, Talipes equinovarus, Advanced eruption of teeth, S...	OMIM:617865
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Ptosis, Prominent nasal bridge, Epi...	ORPHA:1587
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Brachydactyly, Prominent nasal bridge, Micrognathia, Hypoplasia of the max...	OMIM:300534
Orofaciodigital Syndrome Iii	Hyperconvex nail, Hypertelorism, Bulbous nose, Postaxial hand polydactyly, Supernumerary tooth, P...	OMIM:258850
Pigmented Nodular Adrenocortical Disease, Primary, 2	Thin skin, Striae distensae	OMIM:610475
Monosomy 13Q34	Epicanthus, Prominent nasal bridge, Epistaxis, Broad nasal tip, Prominent nose, Hypertelorism, Po...	ORPHA:96168
Ectodermal Dysplasia-Blindness Syndrome	Narrow nasal bridge, Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, F...	ORPHA:1806
Noonan Syndrome 9	Curly hair, Prominent corneal nerve fibers, Hypertelorism, Sparse eyebrow, Downslanted palpebral ...	OMIM:616559
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Palmoplantar keratoderma, Conjunctivitis, Sparse hair, Fragile nails	OMIM:242150
Teebi-Shaltout Syndrome	Syndactyly, Ptosis, Ulnar deviation of the hand, Slow-growing hair, Single transverse palmar crea...	OMIM:272950
Sézary Syndrome	Skeletal muscle atrophy, Alopecia, Palmoplantar keratoderma, Nail dystrophy, Ectropion	ORPHA:3162
Trisomy 10P	Thumb contracture, Epicanthus, Depressed nasal bridge, Anteverted nares, Abnormality of the hand,...	ORPHA:171929
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Sparse scalp hair, Alopecia, Sparse eyelashes, Limited elbow movement, Microgn...	OMIM:614008
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Thick hair, Broad nasal tip, Hypertelorism, Carious...	ORPHA:357074
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Deeply set eye, Narrow greater sciatic notch, Sh...	ORPHA:508533
Au-Kline Syndrome	Ptosis, Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bif...	OMIM:616580
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Epicanthus, Telecanthus, Depressed nasal bridge, Long nose, Slender long bone, Deeply set eye, Sh...	OMIM:618590
Joubert Syndrome 14	Epicanthus, Prominent nasal bridge, Highly arched eyebrow, Postaxial polydactyly, Hypertelorism, ...	OMIM:614424
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly	OMIM:616546
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Hypertelorism, Wide nasal bridge, Short nose	OMIM:616430
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Nail dysplasia, Opacificat...	OMIM:158310
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Epicanthus, Micrognathia, Upslanted palpebral fissure, Epicanthus invers...	OMIM:618820
Three M Syndrome 1	Pes planus, Scapular winging, Hip dislocation, Slender long bone, Short 5th finger, Short ribs, H...	OMIM:273750
Incontinentia Pigmenti	Finger syndactyly, Alopecia, Abnormal fingernail morphology, Camptodactyly of finger, Supernumera...	ORPHA:464
Coffin-Siris Syndrome	Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Ptosis, Depressed nasal bridge, Ante...	ORPHA:1465
Rothmund-Thomson Syndrome Type 1	Calcinosis, Short metacarpal, Plantar hyperkeratosis, Alopecia totalis, Abnormal dental enamel mo...	ORPHA:221008
Wiedemann-Rautenstrauch Syndrome	Synophrys, Hypoplastic vertebral bodies, Sparse hair, Loss of facial adipose tissue, Long toe, La...	ORPHA:3455
Cleidocranial Dysplasia 2	Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v...	OMIM:620099
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Paronychia, Corne...	ORPHA:37
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Nevus sebaceous, Abnormal toe morphology, Abnormal finger morphology, Linear nevus seba...	OMIM:163200
9Q21.13 Microdeletion Syndrome	Long palpebral fissure, Hip dysplasia, Polydactyly, Ptosis	ORPHA:531151
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Neurocardiofaciodigital Syndrome	Syndactyly, Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Polydactyly, Sparse...	OMIM:619869
Craniofrontonasal Syndrome	Ridged nail, Clinodactyly of the 5th finger, Split nail, Broad hallux, Hypertelorism, Hemihypotro...	OMIM:304110
Nail-Patella Syndrome	Ridged nail, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac ho...	OMIM:161200
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
10Q22.3Q23.3 Microdeletion Syndrome	Microretrognathia, Curved middle phalanx of the 4th toe, Epicanthus, Depressed nasal bridge, Ante...	ORPHA:276413
Trichothiodystrophy 3, Photosensitive	Natal tooth, Cataract, Brittle hair, Carious teeth, Developmental cataract, Hypotelorism, Tiger t...	OMIM:616395
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Epicanthus, Depressed nasal bridge, Postaxial polydactyly, Synophrys, Upslanted palpebral fissure	OMIM:615824
Ring Chromosome 7 Syndrome	Unilateral ptosis, Mandibular prognathia, Epicanthus, Anteverted nares, Prominent nasal bridge, S...	ORPHA:1449
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Phocomelia, Split hand, Foot polydactyly	ORPHA:3004
Mend Syndrome	Telecanthus, Cataract, Broad hallux, Prominent nasal bridge, Overlapping toe, Hypertelorism, Micr...	ORPHA:401973
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Cataract, Femoral retroversion, Micromelia, Hyper...	ORPHA:79107
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverte...	OMIM:200600
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Skin ulcer, Palmoplantar keratoderma, Palmoplantar hype...	ORPHA:659
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Short nose, Micrognathia	OMIM:615419
Seckel Syndrome 1	11 pairs of ribs, Pes planus, Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Talipe...	OMIM:210600
Six2-Related Frontonasal Dysplasia	Depressed nasal bridge, Broad nasal tip, Hypertelorism, Wide anterior fontanel, Epicanthus invers...	ORPHA:488437
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Cataract, Anteverted nares, Single transverse palmar crease, Hypertelorism, 2-3 toe s...	OMIM:616449
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Boomerang Dysplasia	Neonatal death, Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Sparse hair, Clinodac...	ORPHA:3103
Brachytelephalangic Chondrodysplasia Punctata	Cataract, Calcaneal epiphyseal stippling, Broad nasal tip, Epiphyseal stippling of toe phalanges,...	ORPHA:79345
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Recurrent upper respiratory tract infections, Cal...	ORPHA:3078
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hypertelorism, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyl...	OMIM:217085
Dyskeratosis Congenita	Macule, Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernai...	ORPHA:1775
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Cohen-Gibson Syndrome	Epicanthus, Cataract, Depressed nasal bridge, Thin nail, Coxa valga, Hypertelorism, Long fingers,...	OMIM:617561
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Wide nose, Micrognathia, Low anterior hairline, Hypertrichosis, Upslanted palpe...	OMIM:608779
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Hypoplastic toenails...	ORPHA:235
Incontinentia Pigmenti	Ridged nail, Delayed eruption of teeth, Alopecia, Cataract, Supernumerary nipple, Keratitis, Nail...	OMIM:308300
Pallister-Hall Syndrome	Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Depressed nasal bridge, Anteverted nares, Ch...	OMIM:146510
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Brittle hair, Anteverted nares, Prominent nasal bridge, Hypertelorism,...	OMIM:607812
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Sparse eyelashes, Alopecia totalis, Abnormal d...	ORPHA:2909
Geleophysic Dysplasia 1	Anteverted nares, Camptodactyly of finger, Coxa valga, Hypoplasia of the capital femoral epiphysi...	OMIM:231050
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Cataract, Rhizomelia, Depressed nasal bridge, Anteverted nares, Micrognathia, Wide...	OMIM:222765
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Depressed nasal bridge, Hypotelorism, Death in childhood, Sparse hair, Short nose, Do...	OMIM:300661
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Blepharophimosis, Clinodactyly of the 5th finger, Sh...	ORPHA:2031
Tarp Syndrome	Finger syndactyly, Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Postaxi...	ORPHA:2886
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Camptodactyly of finger, Hype...	ORPHA:2008
Genitopatellar Syndrome	Hip contracture, Sparse scalp hair, Congenital hip dislocation, Micrognathia, Patellar aplasia, K...	OMIM:606170
Oculoauriculovertebral Spectrum With Radial Defects	Preauricular pit, Aplasia/Hypoplasia of the thumb, Short mandibular rami, Preaxial hand polydacty...	ORPHA:2549
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Cataract, Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal widening, Wide nasal b...	OMIM:614376
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia, Hypertelorism	OMIM:266810
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Broad nasal tip, Hypertelorism, Hypoplastic fifth fingernail, Wide nasal bridge, Shortening of al...	OMIM:614207
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Epicanthus, Congenital hip dislocation, Depressed nasal bridge, Absent nipple, Hypert...	OMIM:104350
Witteveen-Kolk Syndrome	Proximal placement of thumb, Anisocoria, Deeply set eye, Fragile nails, Short palm, Clinodactyly ...	OMIM:613406
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Cataract, Down-sloping shoulders, Hypertelorism, Palmar pits, Irregular os...	OMIM:109400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Death in infancy, Umbilical hernia	ORPHA:2241
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Choanal stenosis, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Ab...	ORPHA:95699
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Clinodacty...	OMIM:209885
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Skin ulcer	ORPHA:409
Congenital Disorder Of Glycosylation, Type Il	Short nose, Depressed nasal bridge, Hip dislocation, Hypertelorism	OMIM:608776
Ane Syndrome	Alopecia, Multiple joint contractures, Ulnar deviation of the hand, Lipoatrophy, Generalized amyo...	ORPHA:157954
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Joubert Syndrome 27	Polydactyly	OMIM:617120
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Narrow pelvis bone, Short ribs, Hypoplastic pelvis, Hypoplastic iliac wing	OMIM:187760
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Tapered toe, Shoulder flexion contracture, Micrognathia, Synop...	OMIM:620369
Werner Syndrome	Sparse scalp hair, Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Miscarriage, Rocker b...	ORPHA:902
Fraser Syndrome	Omphalocele, Death in infancy, Finger syndactyly, Toe syndactyly, Abnormal hair pattern, Lacrimal...	ORPHA:2052
Koolen-De Vries Syndrome	Hypopigmentation of hair, Cataract, Arachnodactyly, Prominent nasal bridge, Epicanthus, Underdeve...	ORPHA:96169
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Underdeveloped nasal alae, Micro...	OMIM:619005
Vascular Ehlers-Danlos Syndrome	Macule, Telecanthus, Alopecia, Hypoplastic lacrimal duct, Epicanthus, Inguinal hernia, Abnormalit...	ORPHA:286
Oculotrichoanal Syndrome	Abnormal hair pattern, Hypertelorism, Bifid nasal tip, Upper eyelid coloboma, Nasolacrimal duct o...	ORPHA:2717
Olmsted Syndrome 2	Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Flexion contracture of digit, Sparse hair,...	OMIM:619208
Autoimmune Polyendocrinopathy Type 1	Alopecia, Cataract, Abnormal fingernail morphology, Opacification of the corneal stroma	ORPHA:3453
Ctcf-Related Neurodevelopmental Disorder	Single transverse palmar crease, Synophrys, Microcornea, Deeply set eye, Joint contracture of the...	ORPHA:363611
Harrod Syndrome	Cataract, Arachnodactyly, Long nose, Dental malocclusion, Hypotelorism, Abnormal shoulder morphol...	ORPHA:2115
H Syndrome	Hallux valgus, Abnormal eyebrow morphology, Alopecia, Recurrent pharyngitis, Upper eyelid edema, ...	ORPHA:168569
Macrodactyly	Macrodactyly	OMIM:155500
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Cataract, Depressed nasal bridge, Anteverted nares, Low anterior hairline, Deeply set eye, Horizo...	OMIM:618797
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Toe syndactyly, Cataract, Bulbous nose, Wide nasal bridge, Shor...	ORPHA:250989
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Talipes, Micrognathia, Postaxial hand polydactyly, Umbilical hernia	ORPHA:2166
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Pes planus, Thin skin	ORPHA:449291
Ataxia-Telangiectasia	Skeletal muscle atrophy, Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Premature gray...	ORPHA:100
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Entropion, Trichiasis, Micrognathia, Sparse eyebrow, Thin eyebrow, Radial deviat...	OMIM:609944
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Upslanted palpebral fissure, Deeply set eye, Astigmatism, Short nose	ORPHA:293948
Mogs-Cdg	Alopecia, Wide nose, Retrognathia, Long eyelashes, Overlapping fingers, Fair hair, Short palpebra...	ORPHA:79330
Omenn Syndrome	Short toe, Alopecia, Abnormal metaphysis morphology, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Thoracoabdominal Syndrome	Omphalocele, Congenital diaphragmatic hernia, Ventral hernia	OMIM:313850
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Cataract, Hypoplasia of the nasal bone, Epiphyseal stippling, Coarse hair, Talip...	OMIM:118650
Cranioectodermal Dysplasia 2	Unilateral ptosis, Micrognathia, Sparse hair, Syndactyly, Rhizomelia, Depressed nasal bridge, Hyp...	OMIM:613610
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Entropion, Slow-growing hair, Aplasia/Hypopla...	ORPHA:1896
Lathosterolosis	Epicanthus, Toe syndactyly, Anteverted nares, Cataract, Micrognathia, Postaxial hand polydactyly,...	OMIM:607330
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Wide nose, Recurrent sinusitis, Micrognathia	OMIM:618282
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Small hypothenar eminence, Sparse facial hair, Decreased p...	ORPHA:2232
Micro Syndrome	Cataract, Anteverted nares, Micrognathia, Wide nasal bridge, Microcornea, Short nose, Generalized...	ORPHA:2510
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow, Hypoplastic...	OMIM:601345
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Single naris, Microcornea, Eyelid coloboma, Abnormali...	ORPHA:141099
Pigmented Nodular Adrenocortical Disease, Primary, 1	Thin skin, Striae distensae	OMIM:610489
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Inguinal hernia, Short fourth metatarsal, Toe syndactyly, ...	OMIM:134780
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hip dislocation, Wide nasal bridge, Buphthalmos, Limb undergrowth, Short nose, Retrognathia, Hirs...	OMIM:618005
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Wide nose, Abnormal fingernail morphology, Supernumerary nipple, Broad nasal tip, Spa...	ORPHA:1521
Multiple Sulfatase Deficiency	Broad hallux phalanx, Cataract, Depressed nasal bridge, Anteverted nares, Corneal opacity, Coarse...	ORPHA:585
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, Talipes calcaneovalgu...	ORPHA:818
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches, Skin ulcer, Conjunctivitis, Cellulitis	ORPHA:47
3Mc Syndrome 2	Ptosis, Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Highly arch...	OMIM:265050
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse scalp hair, Anteverted nares, Narrow nasal tip, Supernumerary nipple, Tapered finger, Hypo...	ORPHA:477993
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Epicanthus, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bon...	ORPHA:93271
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Cutaneous finger syndactyly, Megaloc...	OMIM:211380
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-s...	OMIM:208500
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Cataract, Band keratopathy, Micrognathia, Dental malocclusion, Low posterior hairline, ...	ORPHA:2959
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Anteverted nares, Postaxial polydactyly,...	OMIM:619879
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Depressed nasal bridge, Carious teeth, Tapered finger, Blepharophimosis, Long fingers...	OMIM:616734
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Achondrogenesis Type 2	Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ...	ORPHA:93296
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Carious teeth, Nail dystrophy	OMIM:616353
Crane-Heise Syndrome	Finger syndactyly, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Toe syndactyly...	ORPHA:1512
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Arachnodactyly, Ankle clonus, Distal amyotrophy, Adducted thumb	ORPHA:412057
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Cataract, Depressed nasal bridge, Anteverted nares, Epicanthus, Hypertelorism, Microgn...	OMIM:257300
Leprosy	Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Skeletal muscle atrophy, Autoa...	ORPHA:548
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Inguinal hernia, Aplasia/Hypoplasia of the skin, Abnormal nasolacrimal system ...	ORPHA:2658
Cranioectodermal Dysplasia 1	Single transverse palmar crease, Sparse hair, Rhizomelia, Thin nail, Short toe, Short ribs, Short...	OMIM:218330
Ring Chromosome 13 Syndrome	Aplasia/Hypoplasia of the thumb, Alopecia, Epicanthus, Depressed nasal bridge, Anteverted nares, ...	ORPHA:96176
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Proximal placement of thumb, Sclerocornea, Postaxial foot polydactyl...	ORPHA:139471
Cerebellofaciodental Syndrome	Cataract, Single transverse palmar crease, Tapered finger, Sparse eyebrow, Dental malocclusion, S...	OMIM:616202
Meier-Gorlin Syndrome 6	Microretrognathia, Entropion, Anteverted nares, Depressed nasal bridge, Sandal gap, Underdevelope...	OMIM:616835
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Shprintzen Omphalocele Syndrome	Omphalocele, Epicanthus, Webbed neck	OMIM:182210
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Pyoderma gangrenosum	OMIM:616576
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Hypoplastic toenails, Synophrys, Abnormal toenail morphology, Anteverted nares, Abn...	ORPHA:444077
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Cadds	Short nose, Cataract, Micrognathia	ORPHA:369942
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, Synophrys, Low anterior hairline, Coarse hair, Neonatal deat...	OMIM:612289
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Supernumerary nipple, Wide anterior fontanel, Astigmatism, Contractur...	ORPHA:457279
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Epicanthus, Prominent nasal bridge, Broad nasal tip, Hypertelorism, Micrognathia, Wide nasal brid...	OMIM:300749
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair, Enamel hypoplasia	OMIM:607626
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Cataract, Keratoconjunctivitis, Nail dystrophy, Enamel hypoplasia, Alopecia universalis	OMIM:240300
Kid Syndrome	Psoriasiform dermatitis, Sparse eyelashes, Equinus calcaneus, Sparse eyebrow, Scarring alopecia o...	ORPHA:477
Saethre-Chotzen Syndrome	Long nose, Hypoplasia of the maxilla, Low anterior hairline, Partial duplication of the distal ph...	OMIM:101400
Chromosome 14Q11-Q22 Deletion Syndrome	Epicanthus, Depressed nasal bridge, Hypertelorism, Micrognathia, Wide nasal bridge, Deeply set ey...	OMIM:613457
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epiphyseal stippling, Short nose, Epistaxis, Short distal phalanx of finger	OMIM:277450
Loeys-Dietz Syndrome	Pes planus, Arachnodactyly, Camptodactyly of finger, Micrognathia, Atypical scarring of skin, Thi...	ORPHA:60030
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Lon...	ORPHA:521426
Syngap1-Related Developmental And Epileptic Encephalopathy	Deeply set eye, Postaxial polydactyly	ORPHA:544254
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdev...	OMIM:300912
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Weill-Marchesani Syndrome 1	Cataract, Depressed nasal bridge, Ectopia lentis, Hypoplasia of the maxilla, Microspherophakia, B...	OMIM:277600
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Abse...	ORPHA:90156
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t...	ORPHA:1134
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae...	OMIM:615877
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Advanced eruption of teeth, Arach...	ORPHA:828
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Micrognathia, Microcornea, Iris transillumination defect, Shallow orbits, Clinodactyly ...	OMIM:617306
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Epicanthus, Depressed nasal bridge, Anteverted nares, Tapered finger, Coxa...	OMIM:301040
Diffuse Cutaneous Systemic Sclerosis	Narrow foramen obturatorium, Flexion contracture, Skin ulcer	ORPHA:220393
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cyclopia, Talipes equinovarus,...	ORPHA:261236
Macrocephaly/Autism Syndrome	Short nose, Coarse hair, Depressed nasal bridge	OMIM:605309
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Cataract, Sclerocornea, Wide nasal bridge, Aniridia, Camptodactyly of...	ORPHA:251038
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Recurrent upper respiratory tract infections, Recurrent sinusitis	OMIM:615559
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Cyclopia, Hypotelorism...	ORPHA:280200
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Micrognathia, Dental malocclusion, Low anterior hairline, Hypotelorism, Short nose	ORPHA:329178
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Aplasia cutis congenita on trunk or limbs, Alopecia, Scarring, Atro...	ORPHA:79396
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Microcor...	ORPHA:199
Localized Scleroderma	Skeletal muscle atrophy, Abnormal skin adnexa morphology, Fasciitis, Cutaneous sclerotic plaque, ...	ORPHA:90289
Tolchin-Le Caignec Syndrome	Thick eyebrow, Arachnodactyly, Hooded eyelid, Prominent nose, Hypertelorism, Micrognathia, Wide n...	OMIM:618971
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele	ORPHA:2736
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Micrognathia, Short palm, Clinodactyly of the 5th finger, Microretrognathia, A...	ORPHA:508498
Xp22.3 Microdeletion Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin	ORPHA:1643
Encephalocraniocutaneous Lipomatosis	Alopecia, Nevus psiloliparus, Eyelid coloboma, Lipoma, Limbal dermoid, Multiple central nervous s...	OMIM:613001
Holoprosencephaly 7	Hypoplasia of the premaxilla, Flat nasal alae, Hypertelorism, Synophrys, Absent nasal septal cart...	OMIM:610828
Weill-Marchesani Syndrome 2	Iridodonesis, Short metacarpal, Cataract, Depressed nasal bridge, Lens luxation, Ectopia lentis, ...	OMIM:608328
Robinow Syndrome	Micrognathia, Syndactyly, Depressed nasal bridge, Anteverted nares, Hypertelorism, Persistence of...	ORPHA:97360
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Highly arched eyebrow, Supern...	ORPHA:261494
Neutral Lipid Storage Disease With Ichthyosis	Ptosis, Alopecia, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid dro...	ORPHA:98907
Mullegama-Klein-Martinez Syndrome	Depressed nasal bridge, Curly eyelashes, Prominent nose, Micrognathia, Bulbous nose, Low anterior...	OMIM:301022
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Facial hypotonia, Broad hallux, Upper eyelid entropion, Postaxial polydactyly, A...	ORPHA:457284
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Postaxial polydactyly, Trichiasis, Epiblepharon, Micrognathia, Corneal sca...	OMIM:618460
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Low anterior hairline, Coxa vara, Microcornea, Wrist flexion contractur...	ORPHA:800
Congenital Sialidosis Type 2	Umbilical hernia, Inguinal hernia, Polydactyly, Generalized hypertrichosis	ORPHA:93400
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Highly arched eyebrow, Hypertelorism, Micrognathia, Wide nasal bridge, Short no...	ORPHA:2282
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplantar kerato...	ORPHA:79395
Cushing Disease	Sparse scalp hair, Dorsocervical fat pad, Hirsutism, Skin ulcer, Proximal amyotrophy, Pedal edema...	ORPHA:96253
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Microcornea, Dee...	OMIM:619539
Charge Syndrome	Omphalocele, Hypoplasia of the ulna, Facial palsy, Down-sloping shoulders, Micrognathia, Absent r...	OMIM:214800
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
3Q29 Microdeletion Syndrome	Cataract, Prominent nasal bridge, Tapered finger, Clinodactyly of the 5th finger, Short nose, Dow...	ORPHA:65286
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Postaxial polydactyly, Knee flexion contracture, Long palpebral fissure,...	OMIM:603387
Dend Syndrome	Clinodactyly of the 4th finger, Short nose, Anteverted nares	ORPHA:79134
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis	OMIM:617443
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Cataract, Depressed nasal bridge	OMIM:601811
Oeis Complex	Omphalocele, Absence of the sacrum, 11 pairs of ribs, Congenital hip dislocation, Talipes equinov...	OMIM:258040
Fraser Syndrome 1	Absent eyebrow, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Absent eyelas...	OMIM:219000
Beckwith-Wiedemann Syndrome	Omphalocele, Otosclerosis, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Rha...	ORPHA:116
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Long fingers, Palmopl...	OMIM:617527
Ogden Syndrome	Congenital hip dislocation, Abnormal eyelid morphology, Micrognathia, Deeply set eye, Clinodactyl...	OMIM:300855
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Short metacarpal, ...	OMIM:616145
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Arachnodactyly, Lens subluxation, Microphakia	ORPHA:171844
Vater/Vacterl Association	Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Short thumb, Hypopla...	OMIM:192350
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Prominent nose, Micrognathia, Synophrys, ...	OMIM:612474
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Epicanthus, Abnormal acetabulum morphology, Depressed nasal bridge, Postaxial polydactyly, Supern...	ORPHA:397715
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Decreased palmar creases, Tapered finger, Hypertelorism, Prominent nasolabial ...	ORPHA:2953
Tibial Hemimelia	Absent tibia	OMIM:275220
Cerebellar-Facial-Dental Syndrome	Cataract, Anteverted nares, Single transverse palmar crease, Tapered finger, Sparse eyebrow, Micr...	ORPHA:444072
Congenital Disorder Of Glycosylation, Type Im	Sparse eyebrow, Death in infancy, Alopecia, Sparse eyelashes	OMIM:610768
Desmosterolosis	Hypoplastic nasal bridge, Epicanthus, Rhizomelia, Anteverted nares, Micrognathia, Bilateral talip...	OMIM:602398
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis...	OMIM:606721
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye, Hypoplastic iliac wing, Sparse ...	OMIM:139210
Galloway-Mowat Syndrome 1	Epicanthus, Cataract, Narrow nasal ridge, Prominent nose, Hypertelorism, Micrognathia, Hypoplasia...	OMIM:251300
Pontocerebellar Hypoplasia, Type 2E	Epicanthus, Wide nose, Short nose, Micrognathia	OMIM:615851
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Prominent nose, Depressed nasal bridge, Tapered finger, Wide nasal br...	ORPHA:480880
Diphallia	Inguinal hernia, Absent thumb, Bladder exstrophy, Cloacal exstrophy, Abnormal pubic bone morphology	ORPHA:227
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Sacral dimple, Broad hallux phalanx, Preaxial hand polydactyly, Eyelid colobom...	ORPHA:2211
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Hypoplastic fingernail, Epicanthus, Anteverted nares, Proportionate shortening...	ORPHA:280633
Holocarboxylase Synthetase Deficiency	Alopecia, Keratoconjunctivitis	ORPHA:79242
Dysosteosclerosis	Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Hypoplastic vertebral bodies, ...	ORPHA:1782
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Epicanthus, Postaxial polydactyly, Hip dysplasia, Enamel hypoplasia, Retrognathia	OMIM:614576
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal death, Pteryg...	OMIM:256520
Rabson-Mendenhall Syndrome	Mandibular prognathia, Wide nose, Anteverted nares, Prominent nasal bridge, Thick hair, Onychauxi...	ORPHA:769
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Limited elbow flexion...	OMIM:164745
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Erythrodontia, Loss of eyelashes, Corneal scarring, Conjunctivitis, Joi...	OMIM:263700
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Alopecia, Nail bed telangiectasia, Cutaneous sc...	ORPHA:90291
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Apert Syndrome	Syndactyly, Finger syndactyly, Depressed nasal bridge, Choanal atresia, Limited elbow movement, P...	OMIM:101200
Monosomy 9Q22.3	Delayed eruption of teeth, Epicanthus, Cataract, Palmar pits, Polydactyly, Short nose, Downslante...	ORPHA:77301
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Single transverse palmar crease, Long nose, Hypoplastic toenails, Clinodactyly of the 5th finger,...	OMIM:619522
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Deeply set eye, Concave nasal ridge, Short nose	OMIM:613038
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Epicanthus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Micrognathia, Abnormal ilium...	OMIM:614080
Orofaciodigital Syndrome Type 4	Finger syndactyly, Wide nose, Choanal atresia, Micromelia, Camptodactyly of finger, Hypoplastic t...	ORPHA:2753
Dysosteosclerosis	Micrognathia, Absent frontal sinuses, Abnormal metaphyseal trabeculation, Flared metaphysis, Hypo...	OMIM:224300
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fingernails, Shor...	ORPHA:99413
Mosaic Monosomy X	Micrognathia, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fingernails, Shor...	ORPHA:99228
Monosomy X	Micrognathia, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fingernails, Shor...	ORPHA:99226
Turner Syndrome	Micrognathia, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fingernails, Shor...	ORPHA:881
Desmosterolosis	Epicanthus, Depressed nasal bridge, Micromelia, Abnormality of the nose, Metatarsus adductus, Mic...	ORPHA:35107
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Orofaciodigital Syndrome V	Unilateral ptosis, Sandal gap, Postaxial polydactyly, Hypertelorism, Postaxial hand polydactyly, ...	OMIM:174300
Cardiac Diverticulum	Omphalocele, Diastasis recti, Aplasia/Hypoplasia of the sternum, Left ventricular hypertrophy, Um...	ORPHA:1686
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Aniridia And Absent Patella	Aniridia, Cataract, Aplasia/Hypoplasia of the patella	OMIM:106220
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Flexion cont...	ORPHA:158684
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Absence of the sacrum, Congenital hip dislocation, Hypoplastic toenails, Short long ...	OMIM:306955
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Hajdu-Cheney Syndrome	Micrognathia, Synophrys, Low anterior hairline, Coarse hair, Generalized hirsutism, Iris coloboma...	ORPHA:955
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Anteverted nares, Hypertelorism, Micrognathia, Neonatal death, Short nose...	OMIM:608013
Toriello-Carey Syndrome	Telecanthus, Micrognathia, Sparse eyebrow, Wide anterior fontanel, Clinodactyly, Short palpebral ...	ORPHA:3338
Hutchinson-Gilford Progeria Syndrome	Alopecia, Micrognathia	OMIM:176670
Esophageal Atresia	Omphalocele, Clinodactyly	ORPHA:1199
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Peho Syndrome	Epicanthus, Anteverted nares, Palpebral edema, Tapered finger, Short nose	ORPHA:2836
Molybdenum Cofactor Deficiency, Complementation Group B	Hypertelorism, Ectopia lentis, Lens luxation, Neonatal death, Short nose	OMIM:252160
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Micro...	ORPHA:3472
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Cataract, Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Tape...	ORPHA:268261
Degcags Syndrome	Prominent nose, Micrognathia, Synophrys, Low anterior hairline, Hypotelorism, Premature graying o...	OMIM:619488
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Bardet-Biedl Syndrome 1	Syndactyly, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydacty...	OMIM:209900
Osteogenesis Imperfecta, Type Viii	Inguinal hernia, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontanel, T...	OMIM:610915
Cutis Laxa, Autosomal Recessive, Type Iid	Cataract, Entropion, Hypertelorism, Bulbous nose, Hip dislocation, Wide nasal bridge, Hip dysplas...	OMIM:617403
Pagod Syndrome	Omphalocele, Death in infancy, Congenital diaphragmatic hernia	ORPHA:991
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Single transverse palmar crease, Micrognathia, Hyperconvex fingernails, Ap...	OMIM:194190
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Anomaly of lower limb diaphyses, Fair hair, Arachnodactyly, Prominent nasal ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Anomaly of lower limb diaphyses, Fair hair, Arachnodactyly, Prominent nasal ...	ORPHA:363958
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Exstrophy-Epispadias Complex	Omphalocele, Inguinal hernia, Cystocele, Abnormality of the abdominal wall, Abnormality of the or...	ORPHA:322
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, White hair, Fine hair, Long fibula, Abnormal metaphysis morphology	ORPHA:935
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Metaphyseal sclerosis, Flat acetabular roof, Genu valgum, Lar...	ORPHA:2976
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Epicanthus, Abnormal location of the eyebrow, Equinus calcaneus, Almond-shaped palpebral fissure,...	ORPHA:522077
Fgfr2-Related Bent Bone Dysplasia	Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the lower limb, Hirsutism, S...	ORPHA:313855
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Highly arched eyebrow, Hypertelorism, Synophrys, Short nose	ORPHA:96147
Kindler Epidermolysis Bullosa	Finger syndactyly, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Abnormal dental ename...	ORPHA:2908
Xeroderma Pigmentosum, Complementation Group A	Entropion, Hypermelanotic macule, Conjunctivitis, Dermal atrophy, Verrucous epidermal nevus, Eryt...	OMIM:278700
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Abnormal palmar dermatoglyphics, Bilateral ptosis, Nail dystrophy	OMIM:620040
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Eyelid coloboma, Shallow orbits, Sparse hair, Phocomelia, Wrist fl...	OMIM:268300
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Postauricular pit, Pr...	OMIM:113620
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Avascular necrosis of the capital femoral epiphysis, Fine hair, Premature graying of ha...	OMIM:613990
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Thick eyebrow, Cataract, Delayed ...	OMIM:135500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Micrognathia, Syndactyly, Broad hallux, Highly arched eyebrow, Hypertelorism, Pilomatrixoma, Supe...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Micrognathia, Syndactyly, Broad hallux, Highly arched eyebrow, Hypertelorism, Pilomatrixoma, Supe...	ORPHA:353277
Maternal Uniparental Disomy Of Chromosome 2	Pes planus, Miscarriage, Preaxial hand polydactyly, Contractures of the large joints, Abnormality...	ORPHA:96179
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of eyelid, Genu valgum, Deeply set eye, Short nose, Convex nasal ridge	OMIM:619321
Orofaciodigital Syndrome Xiv	Microretrognathia, Telecanthus, Broad hallux, Micrognathia, Postaxial hand polydactyly, Preaxial ...	OMIM:615948
Encephalocraniocutaneous Lipomatosis	Alopecia, Abnormal nasolacrimal system morphology, Lipodystrophy, Abnormal eyelid morphology, Abn...	ORPHA:2396
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, 2-3 toe syndactyly, Knee flexion con...	OMIM:618162
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Dorsocervical fat pad, Hirsutism	OMIM:615830
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Microretrognathia, Sacral dimple, Synophrys, Talipes cavus equinovarus, Prominent protruding cocc...	OMIM:300966
Beckwith-Wiedemann Syndrome	Omphalocele, Macroglossia, Nevus flammeus, Diastasis recti	OMIM:130650
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Dermal atrophy, Spar...	OMIM:127550
Brain Malformations With Or Without Urinary Tract Defects	Upslanted palpebral fissure, Short nose, Anteverted nares	OMIM:613735
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Abnormal fingernail morphology, Micromelia, Dum...	ORPHA:3144
Bosma Arhinia Microphthalmia Syndrome	Cataract, Choanal atresia, Hypertelorism, Synophrys, Anosmia, Lacrimal duct atresia, Dental maloc...	OMIM:603457
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Diastasis recti, Micrognathia, Neonatal death, Right ventricular hypertrophy	OMIM:265380
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Epicanthus, Inguinal hernia, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Macro...	ORPHA:500095
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Aplasia/Hypoplasia of the skin, Toe syndactyly, Micrognathia, Blue nevus, Abno...	ORPHA:1556
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:615398
Pallister-Hall Syndrome	Depressed nasal ridge, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Anteverted nares,...	ORPHA:672
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Narrow nasal tip, Prominent nasal bridge, Corneal ...	ORPHA:464306
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Micrognathia, Hypoplastic pelvis, Gastroschisis, Tetraamelia	OMIM:273395
Deeah Syndrome	Death in infancy, Epicanthus, Overlapping fingers, Low posterior hairline, Death in adolescence, ...	OMIM:619004
Renpenning Syndrome 1	Mandibular prognathia, Epicanthus, Brittle hair, Cataract, Telecanthus, Micrognathia, Bulbous nos...	OMIM:309500
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Postauricular pit, Narrow greater sciatic notch, Short palm, Pre...	OMIM:312870
Stiff Skin Syndrome	Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Lipoatrophy	ORPHA:2833
Peters Plus Syndrome	Micromelia, Micrognathia, Microcornea, Clinodactyly of the 5th finger, Iris coloboma, Depressed n...	ORPHA:709
Polyendocrine-Polyneuropathy Syndrome	Proximal muscle weakness in lower limbs, Alopecia, Pes cavus	ORPHA:453533
Hartsfield Syndrome	Syndactyly, Epicanthus, Wide nose, Hypertelorism, Hypotelorism, Ectrodactyly, Hypoplasia of the f...	OMIM:615465
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Upslanted palpebral fissure, Short middle phalanx of finger, Shallow orbi...	OMIM:301030
Treacher-Collins Syndrome	Cataract, Choanal atresia, Abnormal dental enamel morphology, Hypertelorism, Absent eyelashes, Ab...	ORPHA:861
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Depressed nasal bridge, Postaxial polydactyly, Postaxial hand polydactyly, Supernumer...	OMIM:617088
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop...	OMIM:106210
Choanal Atresia	Nasal congestion, Polydactyly	ORPHA:137914
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Bowing of the legs, Aplasia/Hypoplasia of the patella, Wide anterior fonta...	OMIM:617063
Adrenoleukodystrophy	Alopecia, Lower limb muscle weakness	OMIM:300100
Immunodeficiency, Common Variable, 10	Trachyonychia, Recurrent viral upper respiratory tract infections, Alopecia totalis, Recurrent si...	OMIM:615577
Secondary Short Bowel Syndrome	Gastroschisis	ORPHA:95427
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Striae distensae, Dorsocervical fat pad, Proximal amyotrophy, Hirsutism	ORPHA:189427
Bladder Exstrophy And Epispadias Complex	Abnormal pelvic girdle bone morphology, Inguinal hernia, Bladder exstrophy	OMIM:600057
Leigh Syndrome	Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Hypertrichosis, Myopathy, Frontal...	ORPHA:506
Alstrom Syndrome	Alopecia, Subcapsular cataract, Abnormality of the hand	OMIM:203800
Geleophysic Dysplasia 2	Hypertelorism, Cone-shaped epiphysis, Short foot, Short palm, Short nose	OMIM:614185
Hutchinson-Gilford Progeria Syndrome	Micrognathia, Shallow orbits, Dystrophic fingernails, Absent eyebrow, Narrow nasal ridge, Persist...	ORPHA:740
Linear Nevus Sebaceus Syndrome	Alopecia, Genu recurvatum, Telecanthus, Melanocytic nevus	ORPHA:2612
Adenylosuccinase Deficiency	Short nose, Anteverted nares	OMIM:103050
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Telecanthus, Arachnodactyly, Hypertelorism, Microcornea, Short columella, Asti...	OMIM:601776
Noonan Syndrome 3	Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Hypertelorism, Short nose, Downslanted pa...	OMIM:609942
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Zttk Syndrome	Curly hair, Epicanthus, Depressed nasal bridge, Sparse eyebrow, Hypoplasia of the maxilla, Small ...	OMIM:617140
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ...	ORPHA:79480
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Carious teeth, Pterygium of nails,...	OMIM:305000
Potocki-Shaffer Syndrome	Epicanthus, Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Micrognathia, Dep...	ORPHA:52022
Hemochromatosis, Type 1	Alopecia	OMIM:235200
Giant Cell Arteritis	Recurrent pharyngitis, Alopecia, Epistaxis, Ptosis	ORPHA:397
Necrotizing Enterocolitis	Gastroschisis	ORPHA:391673
Retinitis Pigmentosa 74	Posterior polar cataract, Polydactyly	OMIM:616562
Phakomatosis Pigmentokeratotica	Rhabdomyosarcoma, Melanocytic nevus, Linear nevus sebaceous, Patchy alopecia, Hemiatrophy, Blue n...	ORPHA:2874
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Recurrent upper respiratory tract infections	ORPHA:169154
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Oculoectodermal Syndrome	Epicanthus, Epidermal nevus, Supernumerary nipple, Lower limb asymmetry, Preauricular skin tag, E...	OMIM:600268
Adams-Oliver Syndrome 1	Aplasia cutis congenita on trunk or limbs, Alopecia, Toe syndactyly, Supernumerary nipple, Aplasi...	OMIM:100300
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Sclerocornea, Micrognathia, Short me...	OMIM:216340
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Micrognathia, Dermal atrophy, Joint ...	OMIM:615381
Doors Syndrome	Abnormal finger morphology, Low anterior hairline, Absent fingernail, Triphalangeal thumb, Clinod...	ORPHA:79500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Epicanthus, Telecanthus, Thick hair, Deep palmar crease, Long eyelashes, Conjunctivitis, Short no...	ORPHA:505248
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Dorsocervical fat pad, Hirsutism, Skin ulcer, Proximal amyotrophy, Pedal edema...	ORPHA:99889
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Short humerus, Short femur, Ragged-red muscle fibers, Flexion contractur...	ORPHA:17
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Skin erosion, Flexion contracture, Atypical scarring of skin, Nail dyspl...	ORPHA:89842
Molybdenum Cofactor Deficiency, Complementation Group A	Hypertelorism, Short nose, Ectopia lentis, Lens luxation	OMIM:252150
Juvenile Dermatomyositis	Calcinosis, Alopecia, Myositis, Palpebral edema, Skin ulcer	ORPHA:93672
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Hypermelanotic macule, Abnormal femoral head morphology, Multiple...	ORPHA:1830
Townes-Brocks Syndrome 1	Preauricular pit, 2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly...	OMIM:107480
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Patchy alopecia, Psoriasiform dermatitis, Alopecia universalis, Cellulitis	OMIM:606367
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Oculoauricular Syndrome	Cataract, Short mandibular rami, Sclerocornea, Nasolacrimal duct obstruction, Developmental catar...	OMIM:612109
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Single transverse palmar crease, Synophrys, Deeply set eye, Juvenile cataract, Iris coloboma, Ant...	OMIM:619475
Mixed Connective Tissue Disease	Keratoconjunctivitis sicca, Alopecia, Myositis	ORPHA:809
Sympathetic Ophthalmia	Alopecia, Cataract, Poliosis, Anterior chamber cells, Posterior synechiae of the anterior chamber...	ORPHA:79098
Celiac Disease, Susceptibility To, 1	Alopecia, Abnormality of the abdominal wall, Enamel hypoplasia	OMIM:212750
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Abnormal fingertip morphology, Skin erosion, Paronychia, Skin plaque, Nail dystrophy, M...	ORPHA:79404
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Hypoplasia of the odontoid process, Hip dislocation, Flattened epiphysis,...	OMIM:183900
Mednik Syndrome	Death in infancy, Cataract, Upslanted palpebral fissure, Death in childhood, Neonatal death	OMIM:609313
Alagille Syndrome 1	Hypoplasia of the ulna, Posterior embryotoxon, Cataract, Depressed nasal bridge, Band keratopathy...	OMIM:118450
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Epicanthus, Telecanthus, Sandal gap, Broad nasal tip, Long fingers, Wide n...	OMIM:620330
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Dry hair, Abnormal hair morphology, Hypoplastic iliac wing, ...	OMIM:133540
Enlarged Parietal Foramina	Aplasia cutis congenita of scalp, Short clavicles, Broad thumb	ORPHA:60015
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Telecanthus, Cataract, Abnormal fingernail morphology, Palpebral edema...	ORPHA:2036
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb...	OMIM:227646
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Alopecia totalis, Recurrent pharyngitis, Recurrent upper respiratory tract infections, ...	ORPHA:293978
Peroxisome Biogenesis Disorder 4B	Short nose, Single transverse palmar crease, Hypertelorism	OMIM:614863
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Epicanthus, Cataract, Depressed nasal bridge, Micrognathia, Abnormality of...	ORPHA:85276
Trichotillomania	Alopecia	OMIM:613229
Biotinidase Deficiency	Alopecia, Conjunctivitis	OMIM:253260
Pediatric Systemic Lupus Erythematosus	Alopecia, Myositis	ORPHA:93552
Xeroderma Pigmentosum, Complementation Group E	Entropion, Conjunctivitis, Dermal atrophy, Ectropion	OMIM:278740
Xeroderma Pigmentosum, Variant Type	Entropion, Conjunctivitis, Dermal atrophy, Ectropion	OMIM:278750
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Missing ribs, Tetraamelia, Micrognathia	ORPHA:3301
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Abnormality of the hand, Micrognathia, Sparse eyebrow, Metap...	OMIM:234100
Restrictive Dermopathy	Aplasia/Hypoplasia of the clavicles, Telecanthus, Entropion, Multiple joint contractures, Short n...	ORPHA:1662
Joubert Syndrome 39	Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
De Sanctis-Cacchione Syndrome	Entropion, Hypermelanotic macule, Equinovarus deformity, Conjunctivitis, Dermal atrophy, Bilatera...	OMIM:278800
Isolated Exencephaly	Proptosis, Depressed nasal bridge, Hypoplasia of the frontal bone	ORPHA:563612
Viss Syndrome	Micrognathia, Microretrognathia, Long toe, Alopecia, Arachnodactyly, Long palpebral fissure, Umbi...	OMIM:619472
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Postaxial polydactyly, Broad nasal tip, Underdeveloped nasal alae, Supernumerary nipple, Dental m...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Postaxial polydactyly, Broad nasal tip, Underdeveloped nasal alae, Supernumerary nipple, Dental m...	ORPHA:352665
Meckel Syndrome	Bowing of the long bones, Cataract, Sclerocornea, Hypertelorism, Micrognathia, Preaxial hand poly...	ORPHA:564
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Premature graying of hair, Dermal atrophy, Nail dystrophy, Generalized hypopig...	ORPHA:3322
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia	OMIM:304790
Biotinidase Deficiency	Alopecia, Conjunctivitis, Limb muscle weakness	ORPHA:79241
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Micrognathia, Short nose, Broad thumb	ORPHA:109
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviati...	OMIM:218600
Kikuchi-Fujimoto Disease	Macule, Erythematous macule, Alopecia, Palpebral edema, Skin nodule, Skin erosion, Skin plaque, P...	ORPHA:50918
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Alopecia	OMIM:210210
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia u...	ORPHA:363618
Nodular Non-Suppurative Panniculitis	Subcutaneous nodule, Panniculitis, Aplasia/Hypoplasia of the skin	ORPHA:33577
Loeys-Dietz Syndrome 2	Syndactyly, Inguinal hernia, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydacty...	OMIM:610168
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Ivory epiphyses of the phalanges ...	OMIM:216400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Psoriasiform dermatitis, Nail dystrophy, Myositis	ORPHA:37042
Legius Syndrome	Cataract, Diaphyseal dysplasia, Xanthelasma, Polydactyly, Lisch nodules, Clinodactyly of the 5th ...	ORPHA:137605
Townes-Brocks Syndrome	Broad hallux phalanx, Pes planus, Toe syndactyly, Blepharophimosis, Lower limb asymmetry, Abnorma...	ORPHA:857
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Culler-Jones Syndrome	Postaxial polydactyly, Hypotelorism	OMIM:615849
Dermatomyositis	Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Abnormal eyelid morphology, Skin ulcer, I...	ORPHA:221
Xeroderma Pigmentosum, Complementation Group C	Entropion, Conjunctivitis, Dermal atrophy, Ectropion	OMIM:278720
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Xeroderma Pigmentosum, Complementation Group D	Entropion, Keratoconjunctivitis sicca, Conjunctivitis, Dermal atrophy, Ectropion	OMIM:278730
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Alopecia, Abnormality of the tongue muscle, Early balding, Bilateral pto...	ORPHA:273
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Epicanthus, Depressed nasal bridge, Arachnodactyly, Absent thumb, Sparse eyebrow, Hyp...	ORPHA:500150
Microphthalmia With Linear Skin Defects Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin, Abnormal nasolacrimal system morphology, Abnormal ...	ORPHA:2556
Relapsing Polychondritis	Keratitis, Alopecia, Cataract, Conjunctivitis	ORPHA:728
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Prominent nasal bridge, Fine hair	OMIM:241080
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Hirsutism	ORPHA:90795
Williams Syndrome	Micrognathia, Hypoplastic toenails, Clinodactyly of the 5th finger, Megalocornea, Abnormal finger...	ORPHA:904
Williams-Beuren Syndrome	Hallux valgus, Medial flaring of the eyebrow, Epicanthus, Depressed nasal bridge, Anteverted nare...	OMIM:194050
Kindler Syndrome	Ridged nail, Symblepharon, Spotty hypopigmentation, Palmoplantar hyperkeratosis, Dermal atrophy, ...	OMIM:173650
Xfe Progeroid Syndrome	Absence of subcutaneous fat, Corneal scarring, Death in adolescence, Dermal atrophy, Enamel hypop...	OMIM:610965
Chronic Graft Versus Host Disease	Alopecia, Fasciitis, Flexion contracture, Intermittent generalized erythematous papular rash, Ski...	ORPHA:99921
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nail dystrophy, Aplasia cutis congenita, Pterygium, Enamel hypoplasia, Ectropion	ORPHA:79403
Omenn Syndrome	Alopecia	OMIM:603554
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Abnormality of the nail	ORPHA:428
Sarcoidosis	Alopecia, Facial palsy, Scarring, Dacryocystitis, Skin nodule, Subcutaneous nodule, Enlarged lacr...	ORPHA:797
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis	OMIM:618775
Autoimmune Polyendocrinopathy Type 4	Keratoconjunctivitis sicca, Alopecia	ORPHA:227990
Aspartylglucosaminuria	Mandibular prognathia, Abnormal morphology of ulna, Hypertelorism, Carious teeth, Wide nasal brid...	ORPHA:93
Autoimmune Polyendocrinopathy Type 3	Keratoconjunctivitis sicca, Alopecia	ORPHA:227982
Ectodermal Dysplasia-Skin Fragility Syndrome	Carious teeth, Palmoplantar keratoderma, Nail dystrophy, Sparse hair, Alopecia universalis	ORPHA:158668
Colchicine Poisoning	Alopecia	ORPHA:31824
Woodhouse-Sakati Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow, Prominent nose	ORPHA:3464
Insulin-Resistance Syndrome Type B	Alopecia, Hirsutism	ORPHA:2298
Behcet Syndrome	Hypopyon, Patchy alopecia, Iritis	OMIM:109650
Malignant Atrophic Papulosis	Dermal atrophy, Papule, Ptosis	ORPHA:679
Duplication Of Urethra	Gastroschisis	ORPHA:237
Subacute Cutaneous Lupus Erythematosus	Annular cutaneous lesion, Dermal atrophy	ORPHA:163525
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Depressed nasal bridge, Anteverted nares, Postaxial polydactyly, Hypertelorism, Broad...	OMIM:619534
Linear Skin Defects With Multiple Congenital Anomalies 3	Asymmetric, linear skin defects, Lacrimal duct atresia	OMIM:300952
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Depressed nasal ridge, Abnormality of secondary sexual hair, Abnormal digit morphology	ORPHA:95494
African Trypanosomiasis	Alopecia, Miscarriage, Keratitis, Conjunctivitis, Iritis	ORPHA:3385
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Foot joint contracture, Flexion contracture, Atrophic scars, Palmoplantar keratoderma, Nail dystr...	ORPHA:79408
Penile Agenesis	Short nose, Depressed nasal bridge, Bilateral talipes equinovarus	ORPHA:49
Linear Skin Defects With Multiple Congenital Anomalies 1	Asymmetric, linear skin defects, Single transverse palmar crease, Congenital diaphragmatic hernia	OMIM:309801
Systemic Lupus Erythematosus	Alopecia	ORPHA:536
Non-Syndromic Sagittal Craniosynostosis		ORPHA:35093
Craniosynostosis 5, Susceptibility To		OMIM:615529

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Alx4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Alx4.

No publications found that use IMPC mice or data for Alx4.

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Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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