Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
distal-less homeobox 6
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Dlx6 mutations

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

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

The table below shows human diseases associated to Dlx6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Finger syndactyly, Split hand, Sensorineural hearing impairment ORPHA:2440

The table below shows human diseases predicted to be associated to Dlx6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hypoplasia of the brainstem, Bulbous nose, Choanal stenosis, Short neck, Low-set ears, Hydranence... OMIM:236500
Charlie M Syndrome
Short philtrum, Thin vermilion border, Narrow mouth, Finger syndactyly, Micrognathia, Macrotia, S... ORPHA:1406
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split hand, Split foot, Abnormality of the ear, Cleft palate, Micrognathia, Malar... OMIM:183700
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Short neck, Aplasia/Hypoplasia of ... ORPHA:2570
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... ORPHA:2412
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Finger syndactyl... ORPHA:1908
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Clubbing of fingers, Superiorly displaced ears, Swan neck-like deformities of the fingers, Abnorm... ORPHA:329252
Chromosome 13Q33-Q34 Deletion Syndrome
Open mouth, Camptodactyly, Choanal atresia, Anencephaly, Short thumb, High palate, Micrognathia, ... OMIM:619148
Hydrolethalus Syndrome 2
Hydrocephalus, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Cleft palate, Micrognath... OMIM:614120
Eem Syndrome
Carious teeth, Abnormality of dental morphology, Finger syndactyly, Widely spaced teeth, Absent e... ORPHA:1897
Rhizomelic Syndrome, Urbach Type
Abnormality of the elbow, Short distal phalanx of finger, High palate, Triphalangeal thumb, Short... ORPHA:3098
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Abnormality of the antihelix, Craniosynostosis, Short nose, Finger syndactyly... ORPHA:2145
Marshall-Smith Syndrome
Scoliosis, Prominence of the premaxilla, Choanal stenosis, Overfolded helix, Choanal atresia, Sho... OMIM:602535
Hydrolethalus
Postaxial hand polydactyly, Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Low-set, po... ORPHA:2189
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Spina bifida occulta, High palate, Micrognathia, Ectrodactyly, Hydrocephal... ORPHA:2437
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Macrotia, Dental crowding, High palate, 2-3 toe syndactyly, Kyphosis, Thick vermilion... OMIM:617061
17Q21.31 Microduplication Syndrome
Short philtrum, Toe syndactyly, Short nose, Anteverted nares, High palate, Abnormality of the den... ORPHA:217340
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Split hand, Camptodactyly, Abnormality of the pinna, Cleft palat... OMIM:246560
Mmep Syndrome
Mandibular prognathia, Oral cleft, Split foot, Microcephaly, Triphalangeal thumb, Median cleft lip ORPHA:3434
Acrorenal Syndrome
Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Cleft palate, Abno... ORPHA:971
Pelvis-Shoulder Dysplasia
Bilateral external ear deformity, Hypoplastic ischia, Acetabular dysplasia, Micrognathia, Fifth f... ORPHA:2839
Moebius Syndrome
Hypoplasia of the brainstem, Short phalanx of finger, Split hand, Camptodactyly, Lower limb under... OMIM:157900
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Microgna... OMIM:260660
Opitz-Kaveggia Syndrome
Delayed closure of the anterior fontanelle, Broad thumb, Narrow palate, Dental crowding, Split ha... OMIM:305450
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Long philtrum, Prominence of the premaxilla, Short nose, Open mouth, Everted ... OMIM:137550
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Bulbous nose, Anteverted nares, Abnormal cerebral white matter morphology, Man... OMIM:600991
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow disloc... ORPHA:1106
Frontonasal Dysplasia 1
Widow's peak, Hypoplastic frontal sinuses, Lipoma of corpus callosum, Camptodactyly, Widely-space... OMIM:136760
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Convex nasal ridge, Short philtrum, Thin vermilion border, Pl... OMIM:156510
49,Xxxxy Syndrome
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, Mandib... ORPHA:96264
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Diastema, Abnormality of the maxilla, Irregular dentition, Cleft lower lip, Cleft... ORPHA:401942
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Abnormal palate morphology, Mesomelia, Tooth agenesis, Abnormal shoulder morp... ORPHA:1277
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Attached earlobe, Sh... ORPHA:1327
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Hypoplasia of the corpus callosum, Recurrent otitis media, Thick uppe... OMIM:617616
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Maxillonasal Dysplasia
Open bite, Scoliosis, Patchy distortion of vertebrae, Short nose, Mandibular prognathia, Short co... ORPHA:1248
Rubinstein-Taybi Syndrome 2
Convex nasal ridge, Carious teeth, Posterior helix pit, Broad thumb, Narrow palate, High palate, ... OMIM:613684
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Scoliosis, Delayed eruption of primary te... OMIM:265800
Jackson-Weiss Syndrome
Convex nasal ridge, Short metatarsal, Toe syndactyly, Broad hallux phalanx, Mandibular prognathia... ORPHA:1540
Aarskog-Scott Syndrome
Oral cleft, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum, External ear m... ORPHA:915
Brachydactyly, Type B1
Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Aplasia/Hypoplasia of the di... OMIM:113000
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Achondroplasia
Limited elbow extension, Conductive hearing impairment, Trident hand, Recurrent otitis media, Meg... OMIM:100800
Mohr Syndrome
Scoliosis, Wormian bones, Accessory oral frenulum, Metaphyseal irregularity, Tongue nodules, Lobu... OMIM:252100
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Short phalanx of finger, Bulbous nos... OMIM:170390
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Micrognathia, Split foot OMIM:601348
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Hyperplasia of the maxilla, Cerebellar hypoplasia, Drooling OMIM:618383
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Arrhinencephaly, Abnormal form of th... ORPHA:1788
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Depressed nasal tip, Wormian bones, Abnormali... ORPHA:2863
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication of the phalanx ... OMIM:616331
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Abnormality of the pinna, Hearing impairment,... OMIM:183600
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Hip dysplasia, Short philtrum, Horizontal eyebrow, Hypoplasia of the corpus callosum, Deep philtr... OMIM:618381
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Mandibular prognathia, Low-set ears, Unilateral cleft lip, Abnorma... ORPHA:1919
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Oligodontia, High palate, Megalencephaly, Thoracic scoliosis, Umbilical he... OMIM:600325
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Tarsal synostosis, Narrow mouth, Microretrognathia, Low-set, posteriorly rotated ea... ORPHA:1307
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Bulbous nose, Split hand, Hirs... OMIM:259600
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Intestinal malrotation, Anencephaly, Bowing of the legs, Lobula... OMIM:269860
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Acrodysostosis
Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, Mandibular prognathia, Abnormality... ORPHA:950
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Dental crowding, Mandibular prognathia, Camptodactyly, Single ... ORPHA:435938
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Scoliosis, Long philtrum, Narrow mouth, Dental crowding, Microretrognathia, Mandibular prognathia... OMIM:300998
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thin vermilion border, Short nose, Anteverted nares, Macrotia, Thick lower lip ver... ORPHA:2701
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Camptodactyly of finger, Talipes equinovarus, High palate, Clinodactyly, Protruding ear, Patchy a... ORPHA:85279
Hartsfield Syndrome
Craniosynostosis, Low-set ears, Posteriorly rotated ears, Ectrodactyly, Syndactyly, Lobar holopro... OMIM:615465
Anauxetic Dysplasia 3
Oligodontia, Hip subluxation, Broad eyebrow, Femoral bowing, Depressed nasal bridge, Genu valgum,... OMIM:618853
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Convex nasal ridge, Abnormal form of the vertebral bodies, ... ORPHA:93262
Cornelia De Lange Syndrome 2
Downturned corners of mouth, Hirsutism, High palate, Short neck, Micrognathia, Low anterior hairl... OMIM:300590
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Abnormality of the stapes OMIM:124490
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Aplasia/Hypoplasia of the corpus callosum, De... ORPHA:776
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Mandibular prognathia, Kyphosis, High palate, Arachnodactyly, Prominent nasal bridge, ... OMIM:300676
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Micrognathia, Conductive hearing impairment, Atresia of the ext... ORPHA:1393
Trisomy 18
Narrow palate, Narrow mouth, Choanal atresia, Anencephaly, Bilateral single transverse palmar cre... ORPHA:3380
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Abnormal form of th... ORPHA:2180
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short nose, Narrow mouth, Short foot, Wide nasal bridge, Short metacarpal, Cleft pal... OMIM:614078
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Bulbous nose, Narrow mouth, Abnormality of the metacarpal bones,... ORPHA:2496
Van Maldergem Syndrome 1
Scoliosis, Downturned corners of mouth, Atresia of the external auditory canal, Sensorineural hea... OMIM:601390
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Large iliac wing, Mandibular prognathia, Bilateral single transverse palmar creases, A... ORPHA:2511
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Low-set, posteriorly ro... ORPHA:2972
Monosomy 5P
Scoliosis, Finger syndactyly, Microretrognathia, Low-set, posteriorly rotated ears, High palate, ... ORPHA:281
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Scoliosis, Cervical segmentation defect, Short neck, Elb... OMIM:108721
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Short nose, Depressed nasal ridge, Narrow mouth, Ulnar deviation of the ... ORPHA:1529
3Mc Syndrome 2
Highly arched eyebrow, Prominence of the premaxilla, Depressed nasal tip, Craniosynostosis, Radio... OMIM:265050
Pfeiffer Syndrome
Humeroradial synostosis, Broad thumb, Short nose, Choanal stenosis, Finger syndactyly, Dental cro... OMIM:101600
Premature Aging Syndrome, Penttinen Type
Scoliosis, Delayed eruption of teeth, Thin vermilion border, Wormian bones, Sparse hair, Elevated... OMIM:601812
Frank-Ter Haar Syndrome
Scoliosis, Delayed eruption of teeth, Camptodactyly of finger, Short philtrum, Genu recurvatum, B... ORPHA:137834
Carpenter Syndrome 1
Scoliosis, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Metatarsus adductus, Se... OMIM:201000
Orofaciodigital Syndrome Vi
Central Y-shaped metacarpal, Tongue nodules, Postaxial polydactyly, High palate, Micrognathia, Pr... OMIM:277170
Spinocerebellar Ataxia, Autosomal Recessive 20
Wide nasal base, Delayed eruption of teeth, Long philtrum, Macroglossia, Scoliosis, Anteverted na... OMIM:616354
8Q22.1 Microdeletion Syndrome
Abnormality of the antihelix, Craniosynostosis, Sandal gap, Short neck, Hypoplasia of the maxilla... ORPHA:178303
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, High palate, ... ORPHA:958
Schinzel-Giedion Syndrome
Scoliosis, Wormian bones, Choanal stenosis, Camptodactyly, Abnormality of the stapes, Short dista... ORPHA:798
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Abnormal palate morph... ORPHA:1278
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Camptodactyly, Sparse scalp hair, Syndactyly, Sparse and thin eyebrow, Joint contract... OMIM:225280
20P12.3 Microdeletion Syndrome
Long philtrum, Thickened helices, Broad thumb, Narrow mouth, Broad hallux phalanx, Wide nasal bri... ORPHA:261295
Cleidocranial Dysplasia
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Wormian bones, Mandibular... ORPHA:1452
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Mandibular prognath... ORPHA:439822
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Narrow mouth, Phalangeal dislocation, Broad first metatarsal, Sandal... OMIM:251450
Thanatophoric Dysplasia Type 1
Platyspondyly, Abnormal sacroiliac joint morphology, Short femur, Wide anterior fontanel, Split h... ORPHA:1860
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Van Maldergem Syndrome 2
Scoliosis, Downturned corners of mouth, Atresia of the external auditory canal, Sensorineural hea... OMIM:615546
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Adactyly, Narrow mouth, Upper limb phocomelia, Finger syndactyly, ... ORPHA:989
Acrofacial Dysostosis, Catania Type
Carious teeth, Short nose, Finger syndactyly, Microretrognathia, Low-set, posteriorly rotated ear... ORPHA:1786
Alopecia-Intellectual Disability Syndrome
Scoliosis, Aplasia/Hypoplasia of the eyebrow, Macrotia, Split hand, Sparse scalp hair, Hearing im... ORPHA:2850
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Low-set ears, Clinodactyly of the 5th finger, Syndactyly, Cleft palate, Small placen... ORPHA:397590
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, Low anterior hairline, Respiratory tract infection, Short nose, Macrotia, 2-3 toe synd... OMIM:218000
2Q31.1 Microdeletion Syndrome
Scoliosis, Thin vermilion border, Abnormality of tibia morphology, Bulbous nose, Downturned corne... ORPHA:251014
Microphthalmia, Syndromic 8
Mandibular prognathia, Oral cleft, Split foot, Cleft upper lip, Cleft palate, Microcephaly, Widel... OMIM:601349
Phocomelia, Schinzel Type
Abnormality of tibia morphology, High, narrow palate, Short neck, Micrognathia, Ectrodactyly, Hyp... ORPHA:2879
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short metatarsal, Short phalanx of finger, Hypoplasia of the corpus callosum, Post... OMIM:617102
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Branchial cyst, Branchial fistula, Atresia of the externa... OMIM:609166
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Preaxial hand polydactyly, Accessory oral frenulum, Large earlobe, ... ORPHA:79113
Nablus Mask-Like Facial Syndrome
Craniosynostosis, Narrow mouth, Camptodactyly, High palate, Short neck, Frontal upsweep of hair, ... OMIM:608156
Aicardi Syndrome
Scoliosis, Prominence of the premaxilla, Hemivertebrae, Dilated third ventricle, Cavum septum pel... OMIM:304050
Coffin-Lowry Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Narrow palate, Open mouth, Short distal phalanx ... ORPHA:192
Trisomy 13
Cystic hygroma, Long philtrum, Abnormality of the antihelix, Postaxial hand polydactyly, Scoliosi... ORPHA:3378
Orofaciodigital Syndrome Type 4
Split hand, Choanal atresia, Aplasia/Hypoplasia of the tibia, Cerebral cortical atrophy, Oral cle... ORPHA:2753
Crossed Polysyndactyly
Postaxial hand polydactyly, Abnormality of the philtrum, Finger syndactyly, Abnormality of the ou... ORPHA:2935
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Downturned corners of mouth, Short neck, Micrognathia, Depressed nasal bridge, Wide anterior font... OMIM:217980
Yunis-Varon Syndrome
Small earlobe, Thin vermilion border, Tapered toe, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:216340
Trichorhinophalangeal Syndrome, Type Iii
Pear-shaped nose, Scoliosis, Short metatarsal, Short phalanx of finger, Underdeveloped nasal alae... OMIM:190351
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Massively thickened l... ORPHA:1798
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Scoliosis, Platyspondyly, Anteverted nares, Hypoplasia of the primary teeth, T... OMIM:234250
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Stillbirth, Upper limb phocomelia, Polydactyly, Syndactyly, Abnormal hi... ORPHA:294975
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Aplasia/Hypoplasia of the radius, Non-midline cleft lip, Anencephaly, Ectopic anus,... ORPHA:2476
Keipert Syndrome
Short hallux, Broad distal phalanx of finger, Broad thumb, Broad hallux phalanx, Tented upper lip... ORPHA:2662
Hypochondroplasia
Limited elbow extension, Lumbar hyperlordosis, Short long bone, Flared metaphysis, Genu varum, Ab... OMIM:146000
Microcephaly-Capillary Malformation Syndrome
Short nose, Abnormal hair whorl, Hypoplasia of the corpus callosum, Cerebral atrophy, Short dista... OMIM:614261
Odontochondrodysplasia 1
Scoliosis, Short phalanx of finger, Flared iliac wing, Death in infancy, Flat acetabular roof, Sm... OMIM:184260
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Thin vermilion border, Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, ... OMIM:609945
Cohen Syndrome
Short metatarsal, Open mouth, High, narrow palate, Micrognathia, Thoracic scoliosis, Hypoplasia o... OMIM:216550
Iniencephaly
Mandibular aplasia, Rocker bottom foot, Spina bifida, Talipes equinovarus, Cystic hygroma, Narrow... ORPHA:63259
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Monosomy 18P
Carious teeth, Abnormality of the antihelix, Low posterior hairline, Short neck, Downturned corne... ORPHA:1598
Autosomal Recessive Robinow Syndrome
Open bite, Scoliosis, Broad thumb, Downturned corners of mouth, Elbow dislocation, Split hand, Br... ORPHA:1507
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Hartsfield Syndrome
Craniosynostosis, Aplasia/Hypoplasia of the corpus callosum, Low-set, posteriorly rotated ears, S... ORPHA:2117
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Abnor... ORPHA:1113
Sweeney-Cox Syndrome
Narrow mouth, Underdeveloped nasal alae, Overfolded helix, Widow's peak, Choanal atresia, Short c... OMIM:617746
Meckel Syndrome, Type 1
Natal tooth, Intestinal malrotation, Anencephaly, Lobulated tongue, Cerebral hypoplasia, Short ne... OMIM:249000
Oculodentodigital Dysplasia, Autosomal Recessive
Abnormal dental enamel morphology, Thin vermilion border, Hypoplasia of teeth, Underdeveloped nas... OMIM:257850
Temtamy Syndrome
Convex nasal ridge, Aplasia/Hypoplasia of the corpus callosum, Thick lower lip vermilion, Microgn... ORPHA:1777
Trichorhinophalangeal Syndrome Type 2
Bulbous nose, Bilateral single transverse palmar creases, Cone-shaped epiphyses of the phalanges ... ORPHA:502
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Bulbous nose, Open mouth, Camptodactyly, Low-set ears, Posteriorly rotated ears, Hear... OMIM:613604
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis... OMIM:614188
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Cystic hygroma, Platyspondyly, Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, T... OMIM:617866
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Short long bone, Coxa vara, Genu varum, Rounded epi... OMIM:611702
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Scoliosis, Carious teeth, Low-set, posteriorly rotated ears, Down-sloping shoulders, Abnormality ... ORPHA:1390
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Ulnar deviation of the hand, Carpal osteolysis, Uln... OMIM:166300
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Craniosynostosis, Sparse hair, Taurodontia, Finger syndactyly,... ORPHA:1515
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Short 1st metacarpal, Single tra... OMIM:601957
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Broad nasal tip, Hypoplasia of the ... ORPHA:2776
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Hall-Riggs Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Platyspondyly, Anteverte... ORPHA:2107
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Abnormal form of the vertebral bodies, Holoprosencepha... ORPHA:1590
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Underdeveloped nasal alae, Webbed neck, Short distal phalanx of finger, Hydranencephaly, Cleft pa... OMIM:601355
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Absent uvula, Broad thumb, Short nose, Anteverted nares, Camptodactyly, Long eyela... OMIM:618529
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... OMIM:601560
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Bifid distal phalanx of toe, Broad thumb, Dental crowding, Triangular mouth, Short dig... OMIM:268310
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Macroglossia, Thick lower lip vermilion, Widely spaced teeth, Split ha... OMIM:309900
Camptodactyly Syndrome, Guadalajara, Type Ii
Camptodactyly of finger, Short 3rd toe, Talipes equinovarus, Short neck, Long philtrum, Macrotia,... OMIM:211920
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Sensorineural hearing i... ORPHA:1427
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Pachygyria, Bulbous nose, Hypoplasia of the corpus callosum, Smooth philtrum, Subcortical band he... OMIM:618737
Craniofacial-Deafness-Hand Syndrome
Short nose, Ulnar deviation of the hand, Sensorineural hearing impairment, Ulnar deviation of the... OMIM:122880
Chromosome 15Q26-Qter Deletion Syndrome
Talipes equinovarus, Short middle phalanx of finger, Wide nasal bridge, Low-set ears, Microcephal... OMIM:612626
Muenke Syndrome
Low anterior hairline, Broad thumb, Short middle phalanx of finger, Recurrent otitis media, High ... OMIM:602849
Yunis-Varon Syndrome
Thin vermilion border, Sparse eyebrow, Bilateral external ear deformity, Slender long bones with ... ORPHA:3472
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Abnormality of ... ORPHA:3268
Pfeiffer Syndrome
Hip dysplasia, Hyperlordosis, Short philtrum, Broad thumb, Short neck, Open mouth, Synostosis of ... ORPHA:710
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hip dysplasia, Scoliosis, Mandibular prognathia, Kyphosis, Hypoplastic iliac wing, Abnormality of... ORPHA:1858
Doors Syndrome
Narrow palate, Bulbous nose, Open mouth, Downturned corners of mouth, Sirenomelia, Atresia of the... ORPHA:79500
Chromosome 8Q21.11 Deletion Syndrome
Short philtrum, Short neck, Downturned corners of mouth, Camptodactyly, Wide nasal bridge, Low-se... OMIM:614230
Meckel Syndrome, Type 10
Postaxial polydactyly, Abnormality of the pinna, Anencephaly, Cleft palate OMIM:614175
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Long philtrum, Thin vermilion border, Short metatarsal, Short neck, Broad nasal tip, Anteverted n... OMIM:617157
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Bowing of the legs, Abnormality of fibula morphology, Arthralg... ORPHA:93323
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... OMIM:112500
Saethre-Chotzen Syndrome
Open bite, Scoliosis, Abnormality of the antihelix, Craniosynostosis, Broad thumb, Narrow palate,... ORPHA:794
Hydrolethalus Syndrome 1
Anencephaly, Micrognathia, Median cleft lip, Postaxial hand polydactyly, Preaxial hand polydactyl... OMIM:236680
Short Stature-Obesity Syndrome
Limb undergrowth, Narrow nose, Clinodactyly of the 5th finger, Prominent nasal bridge, Micrognath... OMIM:269870
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Talipes equinovarus, Macrotia, Mandibular prognathia, High palate, Diastema, Large hands, Smooth ... OMIM:300534
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Bilateral external ear deformity, Ulnar deviation of the hand, Aceta... ORPHA:93307
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Split hand, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Wide nasal b... ORPHA:168486
Okur-Chung Neurodevelopmental Syndrome
Scoliosis, Highly arched eyebrow, Pachygyria, Anteverted nares, High palate, Synophrys, Wide nasa... OMIM:617062
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Scoliosis, Narrow mouth, Exaggerated cupid's bow, Micrognathia, Hallux valgus, Long philtrum, Hyp... OMIM:618659
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Split hand, Split foot, Sparse hair, Abnormality of the dentition OMIM:129810
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Sensorineural hearin... DECIPHER:46
Aarskog-Scott Syndrome
Scoliosis, Widow's peak, Broad philtrum, Short neck, Hypoplasia of the maxilla, Elevated circulat... OMIM:305400
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Brachydactyly, Short 2nd finger OMIM:190680
Acrocallosal Syndrome
Thin vermilion border, Hypoplasia of teeth, Open mouth, Rectovaginal fistula, Triangular mouth, H... OMIM:200990
Martsolf Syndrome 1
Short phalanx of finger, Slender ulna, Metatarsus adductus, Broad fingertip, High palate, Microgn... OMIM:212720
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Microcephaly,... OMIM:225790
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Mandibular prognathia, C... ORPHA:397973
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Mandibular prognathia... OMIM:101800
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Genu valgum, Deformed humeral heads, Short nose, Depressed nasal ridge, Abnormal f... ORPHA:2831
Stickler Syndrome Type 1
Long philtrum, Platyspondyly, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal... ORPHA:90653
Schisis Association
Spina bifida, Anencephaly, Unilateral cleft lip, Anal atresia, Cleft palate, Microcephaly, Trache... ORPHA:63862
Ring Chromosome 13 Syndrome
Absent foot, Short philtrum, Short neck, Aplasia/hypoplasia involving bones of the hand, Macrotia... ORPHA:96176
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Scoliosis, Split hand, Ulnar claw, Hypotrophy of the small hand muscles, High palate, Hammertoe OMIM:607684
Gorlin Syndrome
Scoliosis, Carious teeth, Palmar pits, Mandibular prognathia, Abnormality of the neck, Wide nasal... ORPHA:377
Codas Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Congenital h... ORPHA:1458
Cleidorhizomelic Syndrome
Rhizomelia, Bilateral single transverse palmar creases, Short middle phalanx of the 5th finger, C... ORPHA:1453
11Q22.2Q22.3 Microdeletion Syndrome
Drooling, Hypoplasia of the corpus callosum, Bilateral single transverse palmar creases, Low-set ... ORPHA:444002
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Fryns Syndrome
Hypoplasia of the optic tract, Camptodactyly, Hypoplasia of olfactory tract, Intestinal malrotati... OMIM:229850
Craniodigital-Intellectual Disability Syndrome
Short nose, Thick hair, Finger syndactyly, Long eyelashes, Thick eyebrow, Spina bifida occulta, G... ORPHA:1514
Holoprosencephaly 9
Hypoplasia of the premaxilla, Anterior pituitary hypoplasia, Solitary median maxillary central in... OMIM:610829
Lowry-Maclean Syndrome
Craniosynostosis, Downturned corners of mouth, Choanal atresia, High, narrow palate, Micrognathia... ORPHA:2409
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Long philtrum, Toe syndactyly, Short nose, Narrow mouth, Low-set, posterio... ORPHA:261120
Laron Syndrome
Delayed eruption of teeth, Abnormality of the elbow, Tooth agenesis, Hypoplastic nasal bridge, Mi... ORPHA:633
Focal Dermal Hypoplasia
Open bite, Scoliosis, Abnormal dental enamel morphology, Split hand, Aplasia/Hypoplasia of the lu... ORPHA:2092
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Scoliosis, Split hand, Sensorineural hearing impairment, Split foot, Tapered finger OMIM:220600
Coffin-Siris Syndrome 6
Wormian bones, Short philtrum, Conductive hearing impairment, Low-set, posteriorly rotated ears, ... OMIM:617808
Neu-Laxova Syndrome 1
Short umbilical cord, Camptodactyly, Micrognathia, Short neck, Rocker bottom foot, Macrotia, Limb... OMIM:256520
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Conductive hearing impairment, Low-set, posteriorly rotated ears, Webbed neck,... ORPHA:1131
Distal 17P13.1 Microdeletion Syndrome
High palate, Limitation of knee mobility, Unilateral polymicrogyria, Abnormal hand morphology, Pr... ORPHA:319171
Aicardi Syndrome
Hip dysplasia, Aplasia/Hypoplasia of the cerebellum, Prominence of the premaxilla, Short philtrum... ORPHA:50
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Cubitus valgus, Sparse facial hair, Slender long bones with narrow diaphyses, Metaph... OMIM:608154
Weaver Syndrome
Scoliosis, Camptodactyly of finger, Long philtrum, Broad thumb, Macrotia, Finger syndactyly, Low-... ORPHA:3447
Cooks Syndrome
Broad thumb, Split hand, Dystrophic toenail, Dystrophic fingernails, Triphalangeal thumb, Brachyd... ORPHA:1487
Nager Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Atresia of the ... ORPHA:245
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Macroglossia, Bulbous nose, Hypoplasia of the corpus callosum, Abnormal cerebral white matter mor... OMIM:300354
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Death in infancy, Ulnar deviation of the hand, Stenosis of the external auditory canal, Short nec... OMIM:602613
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... ORPHA:85169
Eec Syndrome
Carious teeth, Abnormal dental enamel morphology, Split hand, Choanal atresia, Coarse hair, Slow-... ORPHA:1896
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Short phal... OMIM:225410
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Abnormal dental enamel morphology, Bilateral single transverse palmar creases, Mic... ORPHA:3253
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Short phalanx of finger, Narrow mouth, Aplasia of the epiglottis, Acetabular dys... OMIM:268305
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Oligodontia, Bulbous nose, Spina bifida occulta, High, narrow palate, Short neck, Micr... ORPHA:1787
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Long philtrum, Radioulnar synostosis, Elbow dislo... OMIM:171480
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Type A brachydactyly, Cone-shaped epiphy... OMIM:112700
Digital Arthropathy-Brachydactyly, Familial
Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi... OMIM:606835
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Choanal stenosis, Mandibular prognathia, Natal tooth, Choanal at... OMIM:259775
Vacterl With Hydrocephalus
Anotia, Spina bifida, Hypoplasia of the radius, Abnormal form of the vertebral bodies, Arrhinence... ORPHA:3412
Mucopolysaccharidosis Type 1
Scoliosis, Split hand, Sensorineural hearing impairment, Sinusitis, Abnormality of the metaphysis... ORPHA:579
Apert Syndrome
Broad thumb, Narrow palate, Mandibular prognathia, Choanal atresia, Sensorineural hearing impairm... ORPHA:87
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Mandibular prognathia, Hemivertebrae, Low posterior hairlin... OMIM:263540
Acrocephalopolysyndactyly Type Iii
Preaxial hand polydactyly, Broad thumb, Short neck, Craniosynostosis, Dental crowding, Mandibular... OMIM:101120
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Genu recurvatum, Split hand, Cerebral atrophy, Abnormality of the dentition, Kyphoscoliosis, Tali... OMIM:604168
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Craniosynostosis, Narrow palate, Camptodactyly, Metatarsus adductus, High palate, Micr... OMIM:182212
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia, Short metatarsal, Short metacarpal, Brachydactyly OMIM:613382
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Underdeveloped nasal alae, Choanal stenosis, Dental cr... OMIM:600920
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Toe syndactyly, Short neck, Abnormality of the philtrum, Overfolded heli... ORPHA:3409
Holoprosencephaly
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Abnormality of the antihelix, Branchial anomaly,... ORPHA:2162
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Scapular winging, Premature graying of hair, Mandibular prognathia, Agan... OMIM:148820
Zechi-Ceide Syndrome
Thin vermilion border, Oligodontia, Short metatarsal, Short philtrum, Downturned corners of mouth... ORPHA:217017
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Wide mouth, Branchial anomaly ORPHA:1296
Cohen Syndrome
Scoliosis, Open mouth, Aplasia/Hypoplasia of the tongue, Sandal gap, Slender toe, Sensorineural h... ORPHA:193
Suleiman-El-Hattab Syndrome
Downturned corners of mouth, Overfolded helix, Polydactyly, Hirsutism, High palate, Long philtrum... OMIM:618950
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Short neck, Underdeveloped nasal alae, Macrotia, Diastema, Attached earlobe, Low-set ears, Brachy... ORPHA:436245
Smith-Magenis Syndrome
Scoliosis, Abnormality of the forearm, Broad palm, Mandibular prognathia, Morphological abnormali... OMIM:182290
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Thin vermilion border, Short nose, Narrow mouth, Abnormal form of the v... ORPHA:2370
Gombo Syndrome
Microcephaly, Clinodactyly, Brachydactyly, Radial deviation of finger OMIM:233270
Tetrasomy X
Hip dysplasia, Radioulnar synostosis, Abnormality of the dentition, Clinodactyly of the 5th finge... ORPHA:9
Otodental Syndrome
Progressive sensorineural hearing impairment, Delayed eruption of teeth, Carious teeth, Abnormal ... ORPHA:2791
Achondroplasia
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Hydrocephalus, Depressed ... ORPHA:15
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad thumb, Underdeveloped nasal alae, Stapes ankylosis, Conductive hearing impa... OMIM:184460
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Short 2nd metacarpal, Long philtrum, Abnormality of dental morphology, Upper li... ORPHA:2878
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the brainstem, Thin vermilion border, Broad thumb, Bulbous nose, Global brain atrop... ORPHA:481152
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Depressed nasal tip, Abnormal hand bone ossifi... OMIM:300244
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Microce... OMIM:211369
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Abnormality of the philtrum, Mandibular prognathia, Atresia of the ... ORPHA:2673
Endocrine-Cerebroosteodysplasia
Polydactyly, Natal tooth, Postaxial polydactyly, Sandal gap, Ulnar deviation of the hand, Microgn... OMIM:612651
Split-Hand And Split-Foot With Hypodontia
Split hand, Split foot, Hypodontia OMIM:183500
Smith-Lemli-Opitz Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Abnormal dental enamel morphology, Split hand, C... ORPHA:818
Atelosteogenesis, Type I
Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant chondrocytes in... OMIM:108720
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... ORPHA:1891
Pycnodysostosis
Hyperlordosis, Delayed eruption of teeth, Wormian bones, Narrow palate, Abnormality of dental mor... ORPHA:763
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Pectoral muscle hypoplasia/aplasia, Sparse eyebrow, Sparse eyelashes, Fi... ORPHA:306542
Thiemann Disease, Familial Form
Abnormality of the metaphysis, Brachydactyly, Abnormality of epiphysis morphology ORPHA:3314
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Hypoplasia of the premaxilla, Absent nasal septa... OMIM:610828
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Thoracolumbar scoliosis, Split foot, Spina bifida occult... OMIM:183802
Tonne-Kalscheuer Syndrome
Broad thumb, Narrow mouth, Downturned corners of mouth, Wide nasal bridge, Brachydactyly, Pulmona... OMIM:300978
Goldberg-Shprintzen Syndrome
Hypoplasia of the brainstem, Bulbous nose, Short neck, Hypoplasia of the maxilla, Pachygyria, Hyp... OMIM:609460
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Postaxial hand polydactyly, Aplasia/Hypoplasia of the corpus callos... ORPHA:2166
Focal Dermal Hypoplasia
Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Congenital hip dislocation, Short ph... OMIM:305600
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, High palate, Short femoral neck, Flat capital femoral epiphysis, Depress... OMIM:612350
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Underdeveloped nasal alae, Abnormal eyelash morphology, Abnormality of t... ORPHA:1794
Distal Monosomy 10Q
Craniosynostosis, Short metatarsal, Widow's peak, Sandal gap, Inferior vermis hypoplasia, Spina b... ORPHA:96148
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short nose, Short phalanx of finger, Red hair, Anteverted nares, Mandibular pro... OMIM:614613
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Broad thumb, Narrow palate, Downturned corners of mouth, Dental crow... OMIM:180700
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Sparse eyelashes, Dental crowding, Conductive hearing impairme... OMIM:616367
Otopalatodigital Syndrome, Type Ii
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Short me... OMIM:304120
Diprosopus
Abnormality of the nose, Non-midline cleft lip, Anencephaly, External ear malformation, Cleft palate ORPHA:1681
Aredyld Syndrome
Scoliosis, Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Low-set, p... ORPHA:1133
20P13 Microdeletion Syndrome
Highly arched eyebrow, Wide anterior fontanel, Bilateral external ear deformity, Hypoplastic heli... ORPHA:313781
Radio-Tartaglia Syndrome
Scoliosis, Bulbous nose, Dental crowding, Hirsutism, High palate, High, narrow palate, Micrognath... OMIM:619312
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Long philtrum, Thin vermilion border, Short fourth metatarsal, Anteverted nares, Hypoplasia of th... ORPHA:464288
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Toe syndactyly, Finger syndactyly, Split hand, Choanal atresia, Lip pit, Non-midline c... ORPHA:1300
Rapp-Hodgkin Syndrome
Narrow mouth, Underdeveloped nasal alae, Progressive alopecia, Narrow nose, Depressed nasal bridg... OMIM:129400
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Recurrent otitis m... OMIM:608940
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetab... ORPHA:750
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Aspiration pneumonia, Cleft soft palate, V... ORPHA:99772
Osteoglosphonic Dysplasia
Scoliosis, Craniosynostosis, Anteverted nares, Abnormal form of the vertebral bodies, Rhizomelia,... ORPHA:2645
Coloboma Of Macula-Brachydactyly Type B Syndrome
Camptodactyly of finger, Broad thumb, Type B brachydactyly, Short distal phalanx of finger ORPHA:1471
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Hyperplasia of the maxilla, Narrow palate, Thoracic kyphoscoliosis, Dental crowding, 2... ORPHA:313892
Schaaf-Yang Syndrome
Scoliosis, Rocker bottom foot, Abnormality of the philtrum, Open mouth, Mandibular prognathia, Ca... OMIM:615547
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Overfolded helix, Thoracic kyphosis, Low-set ears, Clinodactyly, Syndactyly, Microcephaly, Retrog... OMIM:619092
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis, Basal ganglia calcification, Microcephaly, Prominent nasal bridge, Hypoplasia o... OMIM:608432
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Broad thumb, Open mouth, Dental crowding, Abnormally folded helix, Long nose, Dee... OMIM:309520
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Short neck, Finger syndactyly, Microretrognathia, Low-set, posteriorly r... ORPHA:2994
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Abnormality of the septum pellucidum, Thin vermilion border, Toe syndactyly, Short... ORPHA:171839
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... OMIM:112800
Dermatoosteolysis, Kirghizian Type
Scoliosis, Oligodontia, Split hand, Ankle swelling, Joint contracture of the hand, Nail dystrophy OMIM:221810
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hi... OMIM:605282
Dubowitz Syndrome
Scoliosis, Abnormality of the antihelix, Craniosynostosis, Broad thumb, Sandal gap, Metatarsus ad... ORPHA:235
Acrootoocular Syndrome
Small hypothenar eminence, Atresia of the external auditory canal, Grayish enamel, Sandal gap, Se... ORPHA:2980
Hypomandibular Faciocranial Dysostosis
Pursed lips, Choanal stenosis, Aglossia, Coronal craniosynostosis, Micrognathia, Malar flattening... OMIM:241310
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth, Short metatarsal, Short metacarpal, Short neck, Bra... OMIM:612463
Chst3-Related Skeletal Dysplasia
Scoliosis, Delayed eruption of teeth, Highly arched eyebrow, Genu valgum, Sparse eyebrow, Cubitus... ORPHA:263463
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Wide nasal base, Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Finger syndac... OMIM:264475
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Increas... ORPHA:457395
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Intestinal malrotation, Sa... OMIM:215140
Subaortic Stenosis--Short Stature Syndrome
Short toe, Short nose, Short phalanx of finger, Broad toe, Anteverted nares, Narrow mouth, Diaste... OMIM:271960
Trisomy 9P
Scoliosis, Impacted tooth, Short neck, Downturned corners of mouth, Macrotia, Dental crowding, Ky... ORPHA:236
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Genu valgum, Short nose, Anosmia, Abnormality of the nares, Synophrys, Abnormality of the metacar... ORPHA:1295
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Flared iliac wing, Thoracic kyphosis, Small epiphyses, High palate, Short femoral ... OMIM:300232
Cutis Laxa, Autosomal Recessive, Type Ib
Convex nasal ridge, Prominence of the premaxilla, Bulbous nose, Emphysema, Pulmonary artery dilat... OMIM:614437
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Genu valgum, Cubitus valgus, Mandibular prognathia, Smooth philtrum, Umbilical hernia, Wide nasal... ORPHA:1778
Acromicric Dysplasia
Long philtrum, Abnormal eyebrow morphology, Abnormality of femur morphology, Short nose, Bulbous ... ORPHA:969
Trisomy 8Q
Deep palmar crease, Camptodactyly of finger, Short neck, Myelomeningocele, Low-set, posteriorly r... ORPHA:1752
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Thickened nuchal skin fold, Highly arched eyebrow, Camptodactyly of finger, Prominent nasal bridg... ORPHA:2083
Trisomy 20P
Scoliosis, Abnormality of the antihelix, Thin vermilion border, Downturned corners of mouth, Coar... ORPHA:261318
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Diastema, Postaxial polydactyly, Limb undergrowth, Conical tooth, Ov... OMIM:619142
Acrocephalopolydactyly
Cystic hygroma, Abnormality of the mouth, Short nose, Genu recurvatum, Limb undergrowth, Short lo... ORPHA:221054
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Moderate hearing impairment, Short 3rd metacarpal, Broad thumb, Short toe, Broad nasal tip, Recur... ORPHA:370010
Distal 22Q11.2 Microduplication Syndrome
Scoliosis, Abnormality of the antihelix, Bulbous nose, Mandibular prognathia, Abnormality of the ... ORPHA:261337
Craniofrontonasal Dysplasia
Scoliosis, Craniosynostosis, Widow's peak, Broad hallux phalanx, Sandal gap, Oral cleft, Sensorin... ORPHA:1520
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Meckel Syndrome, Type 4
Postaxial hand polydactyly, Hypoplasia of the corpus callosum, Bowing of the long bones, Anenceph... OMIM:611134
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Abnormality of the pinna, Synophrys OMIM:612001
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Sclerosteosis 2
Hearing impairment, Mandibular prognathia, Short finger, Cutaneous finger syndactyly OMIM:614305
3C Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Intestinal malrotation, Death in infancy, Hemive... ORPHA:7
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Anterior scalloping of vertebral bodies, Small e... OMIM:611717
Craniotelencephalic Dysplasia
Craniosynostosis, Hydrocephalus, Arrhinencephaly, Low-set, posteriorly rotated ears, Cerebellar h... ORPHA:1528
Pallister-Hall Syndrome
Broad thumb, Atresia of the external auditory canal, Natal tooth, 3-4 finger cutaneous syndactyly... ORPHA:672
Brachydactyly, Type D
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux OMIM:113200
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Anteverted nares, Umbilical hernia, Dandy-Walker malformation, Protruding tongue, S... OMIM:612938
Ring Chromosome 4 Syndrome
Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Abnormality of the ulna ORPHA:1447
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormality of the antihelix, Elbow dislocation, Ma... ORPHA:2916
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Saul-Wilson Syndrome
Talipes equinovarus, Convex nasal ridge, Platyspondyly, Short metatarsal, Wide anterior fontanel,... OMIM:618150
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Short phalanx of finger, Bulbous nose, Sensorineural hearing impairment, Micrognathia, Coronal cl... OMIM:215150
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Charcot-Marie-Tooth Disease, Type 4B2
Split hand, Sensorineural hearing impairment, Ulnar claw, Kyphoscoliosis, Talipes equinovarus, Ha... OMIM:604563
Wolf-Hirschhorn Syndrome
Scoliosis, Malrotation of small bowel, Downturned corners of mouth, Split hand, Oral cleft, Metat... OMIM:194190
Oculodentodigital Dysplasia
Aplasia/Hypoplasia of the cerebellum, Carious teeth, Abnormal dental enamel morphology, Underdeve... ORPHA:2710
Flat Face-Microstomia-Ear Anomaly Syndrome
Scoliosis, Abnormality of the antihelix, Narrow mouth, Underdeveloped nasal alae, Downturned corn... ORPHA:1968
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... ORPHA:52429
Long-Thumb Brachydactyly Syndrome
Short finger, Long thumb, Brachydactyly OMIM:112430
Distal Xq28 Microduplication Syndrome
Absent antihelix, Broad nasal tip, Open mouth, Recurrent upper respiratory tract infections, Dent... ORPHA:293939
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scoliosis, Flat acetabular roof, Clinodactyly of the 2nd finger, Depressed nasal bridge, Hyperlor... OMIM:618870
Orofaciodigital Syndrome Iv
Porencephalic cyst, Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Cerebral atro... OMIM:258860
Meckel Syndrome
Postaxial hand polydactyly, Preaxial hand polydactyly, Aplasia/Hypoplasia of the corpus callosum,... ORPHA:564
Marshall Syndrome
Hypoplastic frontal sinuses, Sensorineural hearing impairment, Cerebral calcification, High palat... ORPHA:560
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Split hand, Hearing impairment, Ulnar claw, Kyphoscoliosis, Hammertoe OMIM:118220
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Acrorenal-Mandibular Syndrome
Narrow palate, Split hand, Hemivertebrae, High palate, Micrognathia, Elbow flexion contracture, H... OMIM:200980
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Overfolding of the superior helices, Nat... ORPHA:313855
Charcot-Marie-Tooth Disease Type 4D
Distal upper limb muscle weakness, Split hand, Sensorineural hearing impairment, Upper limb amyot... ORPHA:99950
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Scoliosis, Craniosynostosis, Lambdoidal craniosynostosis, Branchial anomaly, Underdeve... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Scoliosis, Craniosynostosis, Lambdoidal craniosynostosis, Branchial anomaly, Underdeve... ORPHA:352665
Anauxetic Dysplasia 1
Platyspondyly, Delayed ossification of carpal bones, Hypoplastic ilia, Short finger, Rhizomelia, ... OMIM:607095
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Metaphyseal widening, Macroglossia, Metaphyseal irregularity, Flared ... OMIM:253200
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal dental enamel morphology, Short nose, Hydrocephalu... ORPHA:1812
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Short middle phalanx of finger, Preaxial polydactyly, Diastema, Post... OMIM:617927
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Agenesis of corpus callosum, Anosmia, Choanal atresia, Tooth agenesis, Clinodactyly, Sensorineura... OMIM:147950
Keipert Syndrome
Broad distal phalanx of finger, Broad thumb, Downturned corners of mouth, Abnormality of the pinn... OMIM:301026
Pseudoleprechaunism Syndrome, Patterson Type
Genu valgum, Hyperplasia of the maxilla, Abnormal mandible condylar process morphology, Metaphyse... ORPHA:2976
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Underdeveloped nasal alae, Tongue nodules, Polydactyly, Lobulat... OMIM:311200
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Clef... OMIM:603194
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Short proximal phalanx of finger, Short toe, Oligodontia, Short finger, Supernumerary tooth, Shor... OMIM:191482
Smith-Magenis Syndrome
Scoliosis, Open mouth, Mandibular prognathia, Abnormal tracheobronchial morphology, Micrognathia,... ORPHA:819
Trichorhinophalangeal Syndrome, Type I
Pear-shaped nose, Scoliosis, Carious teeth, Short metatarsal, Narrow palate, Leukonychia, Slow-gr... OMIM:190350
Frontorhiny
Scoliosis, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Midline nasal groo... ORPHA:391474
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Split foot OMIM:183800
Wolf-Hirschhorn Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Abnormality of the philtrum, Downturned corners ... ORPHA:280
Fountain Syndrome
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Everte... ORPHA:3219
Brown-Vialetto-Van Laere Syndrome 2
Scoliosis, Split hand, Sensorineural hearing impairment, Kyphoscoliosis, Tongue fasciculations OMIM:614707
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Wide nasal base, Long philtrum, Broad thumb, Sparse hair, Anteverted nares, Low-set ears, Posteri... OMIM:617763
Chromosome 16P13.3 Duplication Syndrome
Short phalanx of finger, Short nose, Bulbous nose, Camptodactyly, Low-set ears, Tapered finger, P... OMIM:613458
Genitopalatocardiac Syndrome
Scoliosis, Postaxial hand polydactyly, Downturned corners of mouth, Kyphosis, Non-midline cleft l... ORPHA:2075
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Oligodontia, Split hand, Choanal atresia, Sparse axillary hair, Xerostomia, Rectov... OMIM:129900
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Long philtrum, Hypoplasia of the zygomatic bone, Clinodactyly of the 5th finger, Anteverted nares... ORPHA:3074
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Broad thumb, Short neck, Absent nasal bridge, Low-set, posteriorly rotated ears, M... OMIM:612813
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Coxa valga,... OMIM:109120
Mucolipidosis Iii Alpha/Beta
Scoliosis, Irregular carpal bones, Craniosynostosis, Split hand, Mandibular prognathia, Carpal bo... OMIM:252600
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Osteopor... OMIM:609052
Finnish Upper Limb-Onset Distal Myopathy
Split hand, Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Joint contract... ORPHA:399086
Antley-Bixler Syndrome
Camptodactyly of finger, Long philtrum, Craniosynostosis, Short nose, Anteverted nares, Narrow mo... ORPHA:83
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna ORPHA:1118
Crouzon Disease
Convex nasal ridge, Narrow palate, Narrow internal auditory canal, Conductive hearing impairment,... ORPHA:207
Bartsocas-Papas Syndrome 2
Axillary pterygium, Wide anterior fontanel, Overfolded helix, Bilateral cleft lip and palate, Low... OMIM:619339
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Abnormal cerebral white matter morphology, Hyperplasia of the maxilla OMIM:618587
Charcot-Marie-Tooth Disease And Deafness
Split hand, Sensorineural hearing impairment, Hammertoe OMIM:118300
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Hypoplasia of the maxilla OMIM:300266
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Long philtrum, Absent eyelashes, Microretrognathia, Abnormality of the pin... ORPHA:228396
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Depressed nasal tip, Sparse eyebrow, Recurrent upper re... ORPHA:2399
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... ORPHA:1350
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth, Abnormality of epiphysis morphology, Microcephaly... ORPHA:2643
Neural Tube Defects, Susceptibility To
Anencephaly, Spina bifida occulta, Myelomeningocele, Hydrocephalus, Asymmetry of spinal facet joints OMIM:182940
Toluene Embryopathy
Thin vermilion border, Short nose, Smooth philtrum, Low-set ears, Protruding ear, Hypoplasia of t... ORPHA:1920
Nicolaides-Baraitser Syndrome
Scoliosis, Thin vermilion border, Abnormality of the metacarpal bones, Sandal gap, Curly eyelashe... ORPHA:3051
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... OMIM:311300
Tetramelic Monodactyly
Split hand, Hand monodactyly, Foot monodactyly, Split foot OMIM:187510
Acrofrontofacionasal Dysostosis 2
Thickened nuchal skin fold, Broad thumb, Wide anterior fontanel, Hand polydactyly, Overfolded hel... OMIM:239710
Vacterl/Vater Association
Preaxial hand polydactyly, Finger syndactyly, Low-set, posteriorly rotated ears, Aplasia/Hypoplas... ORPHA:887
Cleft Lip/Palate
Agenesis of lateral incisor, Abnormal number of permanent teeth, Conductive hearing impairment, R... ORPHA:199306
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Cutaneous finger... OMIM:203550
Wt Limb-Blood Syndrome
Radioulnar synostosis, Short phalanx of finger, Joint contracture of the 5th finger, Ulnar deviat... OMIM:194350
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Preaxial polydactyly, Abnormality of the pinna, Anencephaly, Postax... OMIM:616546
Spinal Muscular Atrophy With Mental Retardation
Microcephaly, Syndactyly OMIM:271109
16P12.1P12.3 Triplication Syndrome
Long philtrum, Short 5th finger, Thin vermilion border, Short nose, Bulbous nose, Clinodactyly of... ORPHA:485405
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Split hand, Choanal atresia, Sparse axillary hair, Xerostomia, Ectrodactyly, Hypop... OMIM:604292
Carey-Fineman-Ziter Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Talipes equinovarus, Thin vermilion border, Long... ORPHA:1358
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Scoliosis, Split hand, Hearing impairment OMIM:616688
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Microhydranencephaly
Hypoplasia of the brainstem, Talipes equinovarus, Pachygyria, Macrotia, Cerebellar hypoplasia, Hy... OMIM:605013
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Short distal phalanx of finger, Ulnar bowing, Narrow pelvis bone, Limited elbo... OMIM:210720
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Synostosis of carpal bones, Conductive... ORPHA:3238
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
22Q11.2 Deletion Syndrome
Scoliosis, Small earlobe, Carious teeth, Abnormal dental enamel morphology, Bulbous nose, Narrow ... ORPHA:567
Gorlin-Chaudhry-Moss Syndrome
Low anterior hairline, Oligodontia, Aplasia/Hypoplasia of the nasal bone, Conductive hearing impa... ORPHA:2095
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Short metatarsal, Sparse hair, Sparse eyelashes, Short phalanx of finger, Absent pubic hair, Abse... OMIM:211370
Hypertrophic Neuropathy Of Dejerine-Sottas
Split hand, Hammertoe, Ulnar claw, Kyphoscoliosis OMIM:145900
Kabuki Syndrome 2
Natal tooth, Hirsutism, High palate, Prominent fingertip pads, Micrognathia, Macrotia, Recurrent ... OMIM:300867
D-Bifunctional Protein Deficiency
Long philtrum, Corpus callosum atrophy, Hypoplasia of the corpus callosum, Split hand, High palat... OMIM:261515
Autosomal Dominant Spastic Paraplegia Type 17
Split hand, Hand muscle weakness, Hand muscle atrophy ORPHA:100998
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Oligodontia, Bulbous nose, Aplasia of the distal phalanx of the 5th finger, Underd... ORPHA:364577
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Split hand, Hammertoe OMIM:605726
Silver-Russell Syndrome 3
Low-set ears, Retrognathia, Syndactyly, Finger clinodactyly OMIM:616489
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Microphthalmia With Limb Anomalies
Sandal gap, High palate, Depressed nasal bridge, Postaxial hand polydactyly, Foot oligodactyly, L... OMIM:206920
Congenital Heart Defects And Skeletal Malformations Syndrome
Scoliosis, Carious teeth, Short nose, Finger clinodactyly, Dental crowding, Camptodactyly, Intest... OMIM:617602
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Narrow mouth, Mandibular pr... ORPHA:96334
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Tracheal calcification, Short distal phalanx of toe, Short distal phalanx o... ORPHA:79345
Cardioacrofacial Dysplasia 2
Genu valgum, Short philtrum, Postaxial hand polydactyly, Mandibular prognathia, Deep philtrum, Li... OMIM:619143
Bohring-Opitz Syndrome
Hypoplasia of the brainstem, Narrow palate, Camptodactyly, Hirsutism, Intestinal malrotation, Mic... OMIM:605039
Filippi Syndrome
Thin vermilion border, Short philtrum, Sparse hair, Underdeveloped nasal alae, Finger clinodactyl... OMIM:272440
Trichorhinophalangeal Syndrome Type 1 And 3
Scoliosis, Short metatarsal, Bulbous nose, Leukonychia, Short distal phalanx of finger, High pala... ORPHA:77258
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Hydrocephalus, Depressed nasal ... OMIM:114290
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Nasopalpebral Lipoma-Coloboma Syndrome
Widow's peak, Abnormality of the pinna, Wide nasal bridge, Low-set ears, Cupped ear, Depressed na... OMIM:167730
Multiple Synostoses Syndrome
Broad thumb, Conductive hearing impairment, Cone-shaped epiphysis, Bilateral single transverse pa... ORPHA:3237
Coffin-Siris Syndrome 7
Short philtrum, Macrotia, Recurrent otitis media, Sagittal craniosynostosis, Wide mouth, Sparse s... OMIM:618027
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Abruzzo-Erickson Syndrome
Short toe, Toe syndactyly, Radioulnar synostosis, Macrotia, Conductive hearing impairment, Abnorm... ORPHA:921
Metaphyseal Acroscyphodysplasia
Scoliosis, Abnormality of femur morphology, Depressed nasal ridge, Bowing of the long bones, Cone... ORPHA:1240
Cri-Du-Chat Syndrome
Scoliosis, Short metatarsal, Premature graying of hair, Downturned corners of mouth, Oral cleft, ... OMIM:123450
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Convex nasal ridge, Carious teeth, Narrow mouth, Downturned corners of mouth, Macrotia, Low-set, ... ORPHA:1110
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Postaxial Tetramelic Oligodactyly
Oligodactyly, Abnormality of the metacarpal bones, Ectrodactyly, Abnormality of finger ORPHA:2730
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, Underdeveloped nasal alae, Choanal atresia, Sandal gap, Short distal phalanx of fin... ORPHA:261330
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Emery-Nelson Syndrome
Camptodactyly of finger, Long philtrum, Abnormal thumb morphology, Contractures of the interphala... ORPHA:1927
Cerebrofacioarticular Syndrome
Narrow mouth, Camptodactyly, Micrognathia, Hypoplasia of the maxilla, Anal stenosis, Hypoplasia o... ORPHA:314679
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormality of the antihelix, Sparse hair, Macrotia... ORPHA:1005
Greenberg Dysplasia
Platyspondyly, Abnormal form of the vertebral bodies, Rhizomelia, Abnormal pelvis bone ossificati... ORPHA:1426
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Short metatarsal, Split hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brac... OMIM:106990
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Kniest-Like Dysplasia, Lethal
Platyspondyly, Short neck, Wide anterior fontanel, Metaphyseal irregularity, Narrow mouth, Short ... OMIM:245190
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Talipes equinovarus, Split hand, Kyphoscoliosis OMIM:607831
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bulbous nose, Open mouth, Downturned corners of mouth, Mandibular prognathia, Camptodactyly, High... ORPHA:369891
Ritscher-Schinzel Syndrome 1
Low posterior hairline, Hemivertebrae, Low-set ears, Syndactyly, Depressed nasal bridge, Anal atr... OMIM:220210
Feingold Syndrome
Toe syndactyly, Anteverted nares, Abnormal form of the vertebral bodies, Esophageal atresia, Devi... ORPHA:1305
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Long philtrum, Short phalanx of finger, Overfolded helix, Widow's peak, Abnormality of the pinna,... OMIM:614684
17Q24.2 Microdeletion Syndrome
Scoliosis, Broad thumb, Short neck, Micrognathia, Upper limb undergrowth, Recurrent otitis media,... ORPHA:529962
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Mandibular prognathia, Camptodactyly, Thorac... OMIM:223800
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Genu valgum, Delayed eruption of primary teeth, Posteriorl... OMIM:273050
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Narrow mouth, Camptodactyly, Adducted thumb, Sandal gap, Ulnar deviation of ... OMIM:618435
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly, Sensorineural hearing impairment OMIM:616890
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin vermilion border, Delayed closure of the anterior fontanelle, Bulbous nose, Downturned corne... OMIM:610759
Camptodactyly Syndrome, Guadalajara, Type I
Long neck, Small earlobe, Wormian bones, Hypoplastic 5th lumbar vertebrae, Short metatarsal, Narr... OMIM:211910
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short 2nd toe, Short thumb OMIM:176305
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormality of the antihelix, Mandibular prognathia, Broad hallux phalanx, Aplasia/Hypoplasia of ... ORPHA:3082
Temtamy Syndrome
Highly arched eyebrow, Convex nasal ridge, Long philtrum, Hypoplasia of teeth, Dental crowding, L... OMIM:218340
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Sparse hair, Short 5th metacarpal, Abnormality of the dentition, Supernumerary tooth... ORPHA:1264
Meier-Gorlin Syndrome 5
Small earlobe, Long philtrum, Elbow dislocation, Prominent metopic ridge, Low-set ears, Slender l... OMIM:613805
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Split hand, Ulnar claw OMIM:606595
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly eyelashes, Short neck, Low posterior hairline, Depressed nasal bridge, Long philtrum, Hypop... ORPHA:163654
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Scoliosis, Underdeveloped nasal alae, Sensorineural hearing impairment, Abnormality of the metaph... ORPHA:2637
Orofaciodigital Syndrome Type 1
Open bite, Abnormal dental enamel morphology, Tarsal synostosis, Underdeveloped nasal alae, Tongu... ORPHA:2750
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Radioulnar synostosis, Finger syndactyly, Sensorineural hearing impairment, Clinod... ORPHA:71289
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Split hand, Sensorineural hearing impairment OMIM:617882
Lethal Kniest-Like Dysplasia
Platyspondyly, Abnormal cartilage matrix, Wide anterior fontanel, Coronal cleft vertebrae, Abnorm... ORPHA:2347
Brachydactyly, Type A1, B
Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ... OMIM:607004
Rubinstein-Taybi Syndrome
Hip dysplasia, Highly arched eyebrow, Carious teeth, Convex nasal ridge, Broad thumb, Finger synd... ORPHA:783
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Narrow internal auditory canal, Choan... ORPHA:861
Trisomy 8P
Short fifth metatarsal, Thin vermilion border, Malrotation of small bowel, Aplasia/Hypoplasia of ... ORPHA:264450
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Highly arched eyebrow, Epiphyseal stippling, W... OMIM:619135
Myopathy, Distal, 3
Split hand, Joint contracture of the hand OMIM:610099
Limb Body Wall Complex