banner
Genes Phenotypes Help, News, Blog

Gene: Dlx6 MGI:101927

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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 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
Finger syndactyly, Sensorineural hearing impairment, Split hand, Absent hand, Oligodactyly 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
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Redundant neck skin, Anteverted nares, Single transverse palmar crease, Narrow... OMIM:236500
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set... ORPHA:1908
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split hand, Abnormality of the ear, Cleft palate, Split foot, Malar... OMIM:183700
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Micrognathia, Short neck, Microcep... ORPHA:2570
Hydrolethalus Syndrome 2
Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foo... OMIM:614120
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Chromosome 13Q33-Q34 Deletion Syndrome
Single transverse palmar crease, Micrognathia, Anteriorly placed anus, High palate, Advanced erup... OMIM:619148
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Abnormality of the knee, Brachydactyly, Rhizomelia, Depressed nasal bridg... ORPHA:3098
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... ORPHA:2412
Charlie M Syndrome
Finger syndactyly, Micrognathia, Split hand, Wide nasal bridge, Triphalangeal thumb, Abnormal met... ORPHA:1406
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Abnormal form of the... ORPHA:2839
Czeizel-Losonci Syndrome
Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Prominent antit... ORPHA:2437
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Cleft palate, Abnormal... ORPHA:2145
Hydrolethalus
Low-set, posteriorly rotated ears, Absent septum pellucidum, Micromelia, Micrognathia, Hydrocepha... ORPHA:2189
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Pectoral muscle hypoplasia/aplasia, Conductive hearing impairment, Age... OMIM:136760
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Scoliosis, Hypopl... OMIM:614753
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac w... OMIM:260660
Moebius Syndrome
Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed nasal bridge, Abnormal pinn... OMIM:157900
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Microce... OMIM:614886
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... ORPHA:971
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Cleft palate... OMIM:246560
Zaki Syndrome
Sparse scalp hair, Wide nose, Toe syndactyly, Anteverted nares, Cerebellar vermis hypoplasia, Mic... OMIM:619648
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Eem Syndrome
Finger syndactyly, Absent eyebrow, Sparse scalp hair, Carious teeth, Ectrodactyly, Sparse body hair ORPHA:1897
Opitz-Kaveggia Syndrome
Single transverse palmar crease, Prominent nose, Micrognathia, Short neck, Partial agenesis of th... OMIM:305450
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, ... OMIM:269860
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, Synophrys, Hemivertebrae, Coxa vara, Clinodactyly of the 5th fin... OMIM:614701
Mmep Syndrome
Mandibular prognathia, Split foot, Triphalangeal thumb, Microcephaly ORPHA:3434
Marshall-Smith Syndrome
Thoracic scoliosis, Brittle hair, Synophrys, Distal widening of metacarpals, Coxa vara, Anteriorl... OMIM:602535
Recon Progeroid Syndrome
Attached earlobe, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow ... OMIM:620370
Verheij Syndrome
Branchial cyst, Vertebral fusion, Anteverted nares, Optic nerve hypoplasia, Broad nasal tip, Shor... OMIM:615583
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Synophrys, Abnormal form of the vertebral bodies, High p... ORPHA:1327
Acces Syndrome
Sparse scalp hair, Supernumerary nipple, Hip dislocation, Tracheoesophageal fistula, Protruding e... OMIM:619959
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Thoracolumbar scoliosis, Aplasia/Hypoplasia o... OMIM:113000
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... ORPHA:3232
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,... OMIM:183600
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Hearing impairment, Hy... ORPHA:1860
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Mesomelia, Convex nasal ridge, Brachydactyly ORPHA:1277
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fon... OMIM:619736
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... OMIM:259600
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Cerebrocostomandibular Syndrome
Death in infancy, Cerebral calcification, Spina bifida, Micrognathia, Microcephaly, Kyphosis, Mye... ORPHA:1393
Trisomy 18
Pointed helix, Holoprosencephaly, Bilateral single transverse palmar creases, Microretrognathia, ... ORPHA:3380
2Q31.1 Microdeletion Syndrome
Micrognathia, Short neck, Abnormal tibia morphology, Synophrys, Low anterior hairline, Vertebral ... ORPHA:251014
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short... OMIM:252100
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl... OMIM:156510
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Abnormal pinna morphology, Postaxial polyda... OMIM:614175
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Poste... OMIM:600325
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
11Q22.2Q22.3 Microdeletion Syndrome
Brachydactyly, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, High, narrow palat... ORPHA:444002
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,... OMIM:614078
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose OMIM:137550
Rubinstein-Taybi Syndrome 2
Micrognathia, Prominent nose, High palate, Prominent fingertip pads, Posterior helix pit, Syndact... OMIM:613684
Intellectual Developmental Disorder, Autosomal Recessive 74
Mandibular prognathia, Prominent nose, Wide nasal bridge, Narrow palate, Brachydactyly OMIM:617169
Phenobarbital Embryopathy
Mandibular prognathia, Microcephaly, Aplasia/Hypoplasia of fingers, Abnormal nasal base norpholog... ORPHA:1919
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Anteverted nares... ORPHA:915
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Micro... ORPHA:85279
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Low-set, posteriorly rotated ears, Prominent ... ORPHA:1307
Hartsfield Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Depressed nasal bridge, Craniosynostosis, Split... ORPHA:2117
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Sparse scalp hair, Short metacarpal, Broad eyebrow, Depressed nasal ... OMIM:618853
Monosomy 5P
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Short neck, Microcephaly... ORPHA:281
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hearing impairment, Microcephaly, Abnormal nasal morphology, Split h... ORPHA:2850
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... OMIM:201000
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Micrognathia, Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebellar ... OMIM:225790
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Microcephaly, Anencephal... ORPHA:1590
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Depressed nasal bridge, Rhizomelia, Sandal gap, Micr... OMIM:108721
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg... ORPHA:2180
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Hyperlordosis, Abnormal thumb morpholo... ORPHA:2511
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow... OMIM:225280
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Micrognathia, Cleft palate, Short 5th finger, Polydactyly, Small placenta, Ectrodacty... ORPHA:397590
Cornelia De Lange Syndrome 2
Thick eyebrow, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Limited elb... OMIM:300590
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Depressed na... ORPHA:2863
Phocomelia, Schinzel Type
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Protruding ... ORPHA:2879
Hartsfield Syndrome
Syndactyly, Wide nose, Posteriorly rotated ears, Craniosynostosis, Alobar holoprosencephaly, Micr... OMIM:615465
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Underdeveloped nasal alae, Microcephaly, Cleft palate, Webbed neck, Hydranencephaly, Short distal... OMIM:601355
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Cerebellar hypoplasia, Hyperplasia of the maxilla OMIM:618383
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Mandibular prognathia, Single transverse palmar crease, Ankle ... ORPHA:435938
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Ulnar deviation of the wrist, Camp... ORPHA:1529
Acro-Renal-Mandibular Syndrome
Micrognathia, Short neck, Hemivertebrae, High palate, Low-set, posteriorly rotated ears, Finger s... ORPHA:958
Iniencephaly
Encephalocele, Dandy-Walker malformation, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlord... ORPHA:63259
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Hydrocephalus, Abnorma... ORPHA:93262
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... ORPHA:950
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Overfolded helix, Abnormal antihelix morp... ORPHA:79113
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... OMIM:620099
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
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
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... ORPHA:989
3Mc Syndrome 2
Prominence of the premaxilla, Torticollis, Prominent nasal bridge, Limited elbow movement, Cranio... OMIM:265050
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Hypoplasia ... ORPHA:178303
Van Maldergem Syndrome 1
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Simplified gyral pattern, Anter... OMIM:601390
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Limited elbow movement, Prominent nose, Synophrys, Camptodactyly of t... OMIM:300280
Craniosynostosis 3
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Partial agenesis of th... OMIM:615314
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Sensorineural hearing impairment, Split hand, 2-3 toe syndactyly, Cleft palate, C... DECIPHER:46
Microhydranencephaly
Prominent nasal bridge, Microcephaly, Macrotia, Hypoplasia of the brainstem, Talipes equinovarus,... OMIM:605013
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Mandibular prognathia, Lumbar hyperlordosis, Broad hallux, Depressed nasal bridge, Short thumb, P... OMIM:165800
Schinzel-Giedion Syndrome
Micrognathia, Short neck, Tibial bowing, Anteriorly placed anus, Choanal stenosis, High palate, W... ORPHA:798
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Meckel Syndrome, Type 1
Occipital encephalocele, Micrognathia, Short neck, Lobulated tongue, Agenesis of corpus callosum,... OMIM:249000
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Synophrys, Short met... ORPHA:1278
Van Maldergem Syndrome 2
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneo... OMIM:615546
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Short neck, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal d... OMIM:256520
Lujan-Fryns Syndrome
Arachnodactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Hypoplasia of the ... ORPHA:776
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... OMIM:603194
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Hypoplasia of the maxilla, Hydrocephalus, Synophrys, Wide nasal bridge, Protruding ... OMIM:618302
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... ORPHA:363417
Trisomy 13
Abnormal eyelash morphology, High, narrow palate, Postaxial hand polydactyly, Kyphosis, Sensorine... ORPHA:3378
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Sparse scalp hair, Anteverted nares, Hearing impairment, Cario... ORPHA:2701
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar... ORPHA:93323
Chromosome 15Q26-Qter Deletion Syndrome
Micrognathia, Microcephaly, Wide nasal bridge, Short middle phalanx of finger, Talipes equinovaru... OMIM:612626
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus ORPHA:2476
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Hydrocephal... OMIM:611134
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Broad nasal tip, Micrognathia, Cleft hard palate... ORPHA:166016
Coffin-Siris Syndrome 2
Low anterior hairline, High palate, Dandy-Walker malformation, Depressed nasal bridge, Anteverted... OMIM:614607
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Hypoplastic n... OMIM:186500
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... ORPHA:439822
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Microphthalmia, Syndromic 8
Mandibular prognathia, Split foot, Cleft palate, Microcephaly OMIM:601349
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Anteverted nares, Kyphoscoliosis, Hearing impairment, Bulbous nose, Cl... OMIM:616354
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Megalencephaly, Hydrocephalus, Postaxial hand polydactyly, Thick corpus callosum, Pol... OMIM:615938
Muenke Syndrome
Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Denta... OMIM:602849
Schisis Association
Encephalocele, Spina bifida, Micromelia, Microcephaly, Anencephaly, Tracheoesophageal fistula, Cl... ORPHA:63862
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Camptodactyly of finger... ORPHA:137834
Familial Median Cleft Of The Upper And Lower Lips
Abnormal maxilla morphology, Abnormal mandible morphology ORPHA:401942
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Death in ... OMIM:184260
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, Hearing abnormality, ... ORPHA:2935
Achondroplasia
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Keipert Syndrome
Broad hallux phalanx, Depressed nasal bridge, Prominent nasal bridge, Short hallux, Aplasia/Hypop... ORPHA:2662
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Down-sloping shoulders, Abnormality of the nose, Carious teeth... ORPHA:1390
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal... ORPHA:93307
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Hypoplastic iliac wing, Anterior wedging of L1, Lumbar hyperlordosis, Depre... OMIM:253200
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Arthropathy, Short middle phalanx of finger, Radial deviation of finger, ... OMIM:606835
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Pericallosal lipoma, Sparse eyelashes, Camptodactyly of finger... ORPHA:306542
Congenital Neuronal Ceroid Lipofuscinosis
Microcephaly, Split hand, Wide nasal bridge, Neuronal loss in the cerebral cortex, Aplasia/Hypopl... ORPHA:168486
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Sensorineural hea... OMIM:616890
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Hypoplasia of the maxilla, Long fingers, Diffuse white matter abnormalities, Low ... OMIM:218000
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Hyperlordosis, Dep... ORPHA:2831
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Micro... ORPHA:261295
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, High palate, Short palm, Antegonial no... OMIM:170390
Frontorhiny
Encephalocele, Pericallosal lipoma, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Camp... ORPHA:391474
Coffin-Siris Syndrome 6
Depressed nasal bridge, Posteriorly rotated ears, Kyphoscoliosis, Broad nasal tip, Micrognathia, ... OMIM:617808
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... ORPHA:1453
Ceroid Lipofuscinosis, Neuronal, 10
Microcephaly, Split hand, Wide nasal bridge, Cerebral atrophy, Low-set ears, Neonatal death OMIM:610127
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Cario... OMIM:617102
Ring Chromosome 13 Syndrome
Aplasia/Hypoplasia of the thumb, Alopecia, Anteverted nares, Depressed nasal bridge, Posteriorly ... ORPHA:96176
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Upper limb phocomelia, Abnormality of the neck, Stillbirth, Polydactyly... ORPHA:294975
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Long eye... ORPHA:1514
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Single transverse palmar crease, Hearing impairment, Micrognathia, Posteriorly ... OMIM:613604
Atelosteogenesis, Type I
Laryngeal stenosis, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, ... OMIM:108720
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Single transverse... OMIM:601957
Autosomal Recessive Robinow Syndrome
Micrognathia, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Chronic ... ORPHA:1507
Cooks Syndrome
Split hand, Triphalangeal thumb, Dystrophic fingernails, Broad thumb, Dystrophic toenail, Brachyd... ORPHA:1487
Hall-Riggs Syndrome
Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Prominent nose, Microcephaly, Ky... OMIM:234250
Temtamy Syndrome
Brachydactyly, Micrognathia, Short toe, Aplasia/Hypoplasia of the corpus callosum, Low-set ears, ... ORPHA:1777
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Cerebral calcification, Micromelia, Short neck, Hypoplasia o... ORPHA:1798
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Redundant neck skin, Depressed nasal bridge, Anteverted nares, Proximal placement of ... OMIM:217980
Microcephaly-Capillary Malformation Syndrome
Wide nose, Brachydactyly, Hearing impairment, Hypoplasia of the maxilla, Abnormal hair whorl, Cli... OMIM:614261
Aicardi Syndrome
Prominence of the premaxilla, Cerebellar vermis hypoplasia, Anteverted nares, Block vertebrae, Pr... OMIM:304050
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ... OMIM:184460
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Brachydactyly, Type A3
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... OMIM:112700
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Tapered finger, Sensorineural hearing impairment, Split hand, Split foot, Scoliosis OMIM:220600
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Low anterior hairline, Abnormal form of the vertebral bodies, Triphala... ORPHA:794
Cohen Syndrome
Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Prominent nasal bridge, Single transv... OMIM:216550
Meckel Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Bowing of the long bones, Aplasia/Hypoplasia of... ORPHA:564
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair, Tiger tail... OMIM:619692
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Intestinal pseudo-obstruction, Hearing impairment, Short neck, Kyphosi... OMIM:309900
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High palate, Cond... OMIM:182212
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair, Hypoplasia of the maxilla, Sensorineural hearing impair... OMIM:608154
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, High palate, Ad... ORPHA:192
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cerebellar vermis hypoplasia, Micrognathia, Short neck, Short palm, Clinodactyly of the 5th finge... OMIM:620073
Monosomy 18P
Alopecia, Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Microcephaly, Wide nasal bridg... ORPHA:1598
Trichorhinophalangeal Syndrome, Type Iii
Short metacarpal, Underdeveloped nasal alae, Avascular necrosis of the capital femoral epiphysis,... OMIM:190351
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Cerebral calcification, Arachnodactyly, Carious teeth, P... ORPHA:377
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Platys... ORPHA:90653
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Wrist swell... OMIM:166300
Mucolipidosis Ii Alpha/Beta
Brittle hair, Micrognathia, Metaphyseal widening, Death in childhood, Sparse hair, Depressed nasa... OMIM:252500
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, Low anterior hairline, High palate, 2-5 toe syndactyly, Median cl... OMIM:617746
Orofaciodigital Syndrome Type 4
Joint dislocation, Micromelia, Micrognathia, High, narrow palate, Depressed nasal ridge, Abnormal... ORPHA:2753
Gombo Syndrome
Clinodactyly, Microcephaly, Radial deviation of finger, Brachydactyly OMIM:233270
Waardenburg Syndrome, Type 3
Mandibular prognathia, Scapular winging, Aganglionic megacolon, Prominent nasal bridge, Camptodac... OMIM:148820
Oculodentodigital Dysplasia, Autosomal Recessive
Micrognathia, Hypoplasia of the maxilla, Long nose, Sparse hair, Hypoplasia of the primary teeth,... OMIM:257850
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Pr... OMIM:236680
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Microcephaly, Sensorineu... ORPHA:1131
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ... OMIM:268305
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Brachydactyly, Kyphosis, Dental malocclusion, Hip dysplasia, Scoliosis, Hy... ORPHA:1858
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Lowry-Maclean Syndrome
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Ta... ORPHA:2409
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... ORPHA:763
Brachydactyly, Type A2, With Microcephaly
Microcephaly, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypoplasti... OMIM:211369
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve... ORPHA:87
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... ORPHA:397973
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... ORPHA:1458
Diprosopus
External ear malformation, Anencephaly, Cleft palate, Abnormality of the nose ORPHA:1681
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Hallux valgus, Prominent nose, Micrognathia, Microcephaly, Broad thumb, High palate, Clinodactyly... OMIM:620194
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anterior ha... OMIM:212720
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Finger syndactyly, Alopecia, Abnormal dental enamel morphology, ... ORPHA:2092
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... OMIM:300244
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Short metatars... OMIM:614613
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Anteverted nares, Abnormal dental enamel morphology, Rhizomelia... ORPHA:1515
Hall-Riggs Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Thick hair, Promi... ORPHA:2107
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Brachydactyly, Broad hallux, Prominent nasal bridge, Hearing impairment, Micrognat... OMIM:618659
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Abnormal form of the verte... ORPHA:750
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Single transverse palmar crease, Micromelia, Finger joint hypermobility, Micro... OMIM:618870
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Short neck, Protruding tongue, Hydrocephalus, Sensorineural hearing impairment,... OMIM:612938
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Broad nasal tip ORPHA:2776
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Short neck, Micrognathia, High, narrow pala... OMIM:620156
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Protruding ear, Increased laxity of ankles, Hypoplasia of the brainste... ORPHA:481152
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Brachydactyly, Low-set, posteriorly rotated ears, Abnormal ... ORPHA:1786
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Cleft... OMIM:611561
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger ORPHA:1471
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Dental malocclusion, ... OMIM:608940
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Depressed nasal bridge, Sandal gap, Abnormal pinna morphology, Kyphosis, B... OMIM:300354
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Single transverse palmar c... OMIM:305400
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... OMIM:112800
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Thoracic kyphoscoliosis... ORPHA:313892
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Thickened nuchal skin fold, Brachydactyly, Posteriorly rotated ears, Prominent nasal bridge, Camp... ORPHA:2083
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Genu recurvatum, Kyphoscoliosis, Malar prominence, Split hand, Cerebral atrophy, Talipes equinovarus OMIM:604168
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Depressed nasal bridge, Micromelia, Aplastic clavicle, Postaxial po... OMIM:616546
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Short neck, Kyphos... ORPHA:3409
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... OMIM:101800
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Sparse eyelashes, Posteriorly rotated ears, Micrognathia, Short neck, High, na... ORPHA:1787
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Hypoplasia of... OMIM:620157
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dislocated radi... OMIM:612350
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Wide nasal br... ORPHA:710
Focal Dermal Hypoplasia
Cleft ala nasi, Congenital hip dislocation, Brittle hair, Osteopathia striata, Short metatarsal, ... OMIM:305600
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Single transverse palmar crease, Micrognathia, Synophrys, Low anterior hairline, High palate, Cli... OMIM:617061
Osteoglophonic Dysplasia
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... OMIM:166250
Craniofrontonasal Dysplasia
Depressed nasal ridge, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Broad hall... ORPHA:1520
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Synophrys, Abnormal pinna morphology, Brachydactyly OMIM:612001
Trichorhinophalangeal Syndrome Type 2
Joint dislocation, Sparse scalp hair, Brachydactyly, Low-set, posteriorly rotated ears, Microceph... ORPHA:502
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Hydrocephalus, Congenital, 3, With Brain Anomalies
Redundant neck skin, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis... OMIM:617967
Laron Syndrome
Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Micro... ORPHA:633
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Alopecia, Osteolysis involving bones of the upper limbs, Osteolysis involving bones o... ORPHA:88630
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Hol... ORPHA:818
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Malabsorption... ORPHA:50
Limb Body Wall Complex
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,... ORPHA:2369
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Microcephaly, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Scol... ORPHA:3268
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis, Sensorineural hearing impairment, Split hand, Hammertoe, Talipes equinovarus, Uln... OMIM:604563
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Occipital encephalocele, Finger syndactyly, Preaxial hand poly... ORPHA:887
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Anencephaly 2
Anencephaly, Bifid nose, Median cleft palate OMIM:619452
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Abnormal form of the vertebral bodies, Abnormal pelvic girdle ... ORPHA:2370
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451
Weaver Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Sandal gap, Camptodactyly of finger, Microg... ORPHA:3447
Distal Deletion 10Q
Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Shor... ORPHA:96148
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Low... ORPHA:235
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Split hand, Hammertoe, Ulnar claw, Hearing impairment OMIM:118220
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal nasal morphology... ORPHA:2878
Branchiootic Syndrome
Micrognathia, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... ORPHA:52429
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Attached earlobe, Underdeveloped nasal alae, Micrognathia, Short neck, Dental malocclusion, Low-s... ORPHA:436245
Brachydactyly, Type E2
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Mucopolysaccharidosis Type 1
Joint dislocation, Sinusitis, Depressed nasal bridge, Malabsorption, Abnormal nasal morphology, H... ORPHA:579
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Hypoplasia of the maxilla, Clinodactyly, High palate, Conductive hearing i... OMIM:614188
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis, Sensorineural hearing impairment, Split hand, Upper limb amyotrophy, Distal upper... ORPHA:99950
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, Hi... OMIM:300676
Nager Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micro... ORPHA:245
20P13 Microdeletion Syndrome
Finger syndactyly, Posteriorly rotated ears, Prominent nasal bridge, Highly arched eyebrow, Micro... ORPHA:313781
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... OMIM:252600
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Broad nasal tip, Bifid distal phalanx of the thum... ORPHA:370010
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Coarse hair, Finger syn... ORPHA:1896
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperlordosis, Kyphosis... ORPHA:40
Suleiman-El-Hattab Syndrome
Microretrognathia, Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Frontal... OMIM:618950
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Sensorineural hearing... OMIM:194350
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Subglottic stenosis, ... ORPHA:93357
Nablus Mask-Like Facial Syndrome
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Low anterior hairline, Hi... OMIM:608156
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly ORPHA:1296
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Low anterior hairline, Coxa vara, Metaphyseal cupping of metaca... OMIM:300232
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
High, narrow palate, Split hand, Kyphosis, Scoliosis OMIM:618124
Tetrasomy X
Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly ORPHA:9
Tonne-Kalscheuer Syndrome
Prominent nasal bridge, Prominent nose, Micrognathia, Microcephaly, Velopharyngeal insufficiency,... OMIM:300978
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly OMIM:183800
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Hearing imp... ORPHA:1914
Holoprosencephaly
Short neck, Synophrys, Depressed nasal ridge, Abnormal form of the vertebral bodies, Absent nares... ORPHA:2162
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Choanal atresia, Micrognathia, Split hand, Fibrous syngnathia,... ORPHA:1300
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Arachnodactyly, Camptoda... ORPHA:2994
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal... OMIM:612463
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Porencephalic cyst, Cle... OMIM:258860
D-Bifunctional Protein Deficiency
Depressed nasal bridge, Cerebral dysmyelination, Micrognathia, Corpus callosum atrophy, Cortical ... OMIM:261515
Acrootoocular Syndrome
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Cond... ORPHA:2980
Hypochondroplasia
Brachydactyly, Widened interpedicular distance, Depressed nasal bridge, Lumbar hyperlordosis, Fla... OMIM:146000
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the humerus, Abnormality of th... ORPHA:1794
Holoprosencephaly 7
Alobar holoprosencephaly, Synophrys, Partial agenesis of the corpus callosum, Hypoplastic nasal s... OMIM:610828
Charcot-Marie-Tooth Disease And Deafness
Thenar muscle atrophy, Sensorineural hearing impairment, Thenar muscle weakness, Split hand, Hamm... OMIM:118300
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ma... OMIM:616367
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Broad ... OMIM:619451
3C Syndrome
Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Aplasia/Hypoplasia of the cerebellu... ORPHA:7
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Wide nasal bridge, Cerebral atrophy, Genu valgu... ORPHA:166024
Tetramelic Monodactyly
Split foot, Split hand, Foot monodactyly, Hand monodactyly OMIM:187510
Atelosteogenesis Type Ii
Laryngeal stenosis, Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of fin... ORPHA:56304
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... OMIM:609052
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe syndactyly, Large earlo... ORPHA:485405
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, High palate, Hypoplasia of the ulna, Split hand, Split foot, Low-set... OMIM:200980
Orofaciodigital Syndrome Xix
Lobulated tongue, High palate, Thick nasal alae, Broad hallux, Cleft soft palate, Underfolded hel... OMIM:620107
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Genu valgum, Malar flattening, Maxi... ORPHA:2972
Pallister-Hall-Like Syndrome
Occipital encephalocele, Death in infancy, Toe syndactyly, Depressed nasal bridge, Micromelia, Mi... OMIM:241800
Toriello-Carey Syndrome
Short neck, Micrognathia, Partial agenesis of the corpus callosum, Anteriorly placed anus, Anotia... ORPHA:3338
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Bulbous nose, Synophrys, Subcortical band heterotopia, Protruding ear,... OMIM:618737
Finnish Upper Limb-Onset Distal Myopathy
Joint contracture of the hand, Split hand, Weakness of the intrinsic hand muscles, Intrinsic hand... ORPHA:399086
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ... OMIM:277170
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal den... ORPHA:1133
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, ... OMIM:619636
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Microcephaly, Overfolded helix, Large fleshy ears, Thoracic kyphosis,... OMIM:619092
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, 2-3 toe c... OMIM:600920
Split-Hand And Split-Foot With Hypodontia
Split hand, Split foot OMIM:183500
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Posteriorly rotated ears, Short neck, Me... OMIM:612813
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Abnormality of the ear, Cox... ORPHA:457395
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Split hand, Hand muscle weakness ORPHA:100998
Acrocephalopolydactyly
Genu recurvatum, Short neck, Depressed nasal ridge, Short long bone, Microtia, Limb undergrowth, ... ORPHA:221054
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of the premaxilla, Intestinal malrot... ORPHA:2166
Smith-Magenis Syndrome
Mandibular prognathia, Micrognathia, Synophrys, Abnormal form of the vertebral bodies, Conductive... ORPHA:819
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Short distal phalanx of finger OMIM:300266
Radio-Tartaglia Syndrome
Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, High palate, Conductive hear... OMIM:619312
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Hip dysplasia, Clinod... ORPHA:71289
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, H... OMIM:612651
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Multiple Synostoses Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... ORPHA:3237
Osteoglosphonic Dysplasia
Rhizomelia, Anteverted nares, Choanal atresia, Micrognathia, Craniosynostosis, Abnormal form of t... ORPHA:2645
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Highly ... ORPHA:263463
Metaphyseal Acroscyphodysplasia
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... ORPHA:1240
Schaaf-Yang Syndrome
Mandibular prognathia, Rocker bottom foot, Tapered finger, Kyphosis, Small hand, Narrow palm, Sho... OMIM:615547
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Clinodactyly... ORPHA:193
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Acrofrontofacionasal Dysostosis 2
Thickened nuchal skin fold, Syndactyly, Wide nose, Redundant neck skin, Broad hallux, Posteriorly... OMIM:239710
Raine Syndrome
Mandibular prognathia, Cerebral calcification, Micromelia, Micrognathia, Short neck, Protruding e... OMIM:259775
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Split hand, Anencephaly, Abnormal tibia morphology, Cleft palate, A... ORPHA:1335
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Micrognathia, Prominent interphalangeal joints, Aplasia/Hypoplasia of the capita... OMIM:215150
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl... ORPHA:261330
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Brachydactyly, Prominent nasal bridge, Micrognathia, Hypoplasia of the max... OMIM:300534
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Periventricular cysts, Abnormal form of the verteb... OMIM:194190
Skraban-Deardorff Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Hypoplasia of the corpus ca... OMIM:617616
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Split hand, Talipes equinovarus, Kyphoscoliosis OMIM:607831
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Anteverted nares, Short neck, Microcephaly, Sensorineural hearing impair... ORPHA:464288
Smith-Magenis Syndrome
Mandibular prognathia, Hearing impairment, Velopharyngeal insufficiency, Synophrys, Broad palm, W... OMIM:182290
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Congenital muscular torticollis, Thickened nuchal skin fold, Vertebral fus... ORPHA:2916
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Alopecia, Hydrocephalus, Split hand, Absent toe,... ORPHA:974
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Abnormal cerebral white matter morphology, Hyperplasia of the maxilla OMIM:618587
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Hydrocephalus, Sensor... OMIM:109120
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Alopecia, Prominent nose, Cario... OMIM:203550
Acrocallosal Syndrome
Mandibular prognathia, High palate, Clinodactyly of the 5th finger, Agenesis of corpus callosum, ... OMIM:200990
Specific Granule Deficiency 2
Death in infancy, Sandal gap, Abnormal pinna morphology, Posteriorly rotated ears, Simple ear, Am... OMIM:617475
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Highly arc... ORPHA:783
Trisomy 8Q
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Short neck, Myelomening... ORPHA:1752
Nicolaides-Baraitser Syndrome
Joint dislocation, High, narrow palate, Abnormal finger morphology, Short palm, Sparse hair, Thic... ORPHA:3051
Oculodentodigital Dysplasia
Mandibular prognathia, Brittle hair, Cerebral calcification, Micrognathia, Abnormality of the ear... ORPHA:2710
Feingold Syndrome Type 2
Toe syndactyly, Jejunal atresia, Microcephaly, Short thumb, Short middle phalanx of finger, Brach... ORPHA:391646
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr... OMIM:605282
Brown-Vialetto-Van Laere Syndrome 2
Kyphoscoliosis, Split hand, Scoliosis, Sensorineural hearing impairment OMIM:614707
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Narrow palate, Multiple suture cranios... ORPHA:207
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Short neck, High palate, Short palm, Duplication of the distal phalanx of hand, Dis... OMIM:180700
Acromicric Dysplasia
Abnormal eyebrow morphology, Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Bulbous ... ORPHA:969
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... OMIM:223800
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Wiedemann-Steiner Syndrome
Elbow hypertrichosis, Micrognathia, Synophrys, High palate, Clinodactyly of the 5th finger, Short... OMIM:605130
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Conductive hearing impairment, Calvarial osteosclerosis, Anteverted nares, Depresse... OMIM:616331
Greenberg Dysplasia
Micromelia, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Tetraphocomelia, Hypo... OMIM:215140
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, Abnormality of t... ORPHA:2491
Filippi Syndrome
Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe syndactyly, Microcephaly, Wid... OMIM:272440
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... OMIM:617201
Myopathy, Distal, 3
Joint contracture of the hand, Split hand OMIM:610099
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Sensorineural hearing impairment, Anosmia, Cleft palate, Ectrodactyly, Hyposmia,... OMIM:147950
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Split hand, Scoliosis, Intrinsic hand muscle atrophy, Hearing impairment OMIM:616688
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pt... OMIM:619339
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Mullegama-Klein-Martinez Syndrome
Depressed nasal bridge, Curly eyelashes, Prominent nose, Micrognathia, Microcephaly, Bulbous nose... OMIM:301022
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Vertebral segmentation defect... ORPHA:453504
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti... ORPHA:79345
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Vertebral segmentation defect... ORPHA:352665
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear... OMIM:311300
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... OMIM:269250
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy... OMIM:611717
Nasopalpebral Lipoma-Coloboma Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Sparse eyebrow, Widow's peak, Cupped ear, Wide... OMIM:167730
Zechi-Ceide Syndrome
Mandibular prognathia, Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Thick hair, Short met... ORPHA:217017
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Sensorineural hearing impairment, Split hand, Hearing impairment OMIM:617882
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, High palate, Camptoda... ORPHA:261337
Emery-Nelson Syndrome
Depressed nasal bridge, Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb... ORPHA:1927
Distal 17P13.1 Microdeletion Syndrome
Arachnodactyly, Prominent nasal bridge, Limited elbow movement, Unilateral polymicrogyria, Microc... ORPHA:319171
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc... OMIM:156530
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, Micrognathia, Cleft soft palate, Cli... OMIM:618529
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodact... OMIM:210720
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Alkuraya-Kucinskas Syndrome
Micrognathia, Hypoplasia of the brainstem, High palate, Dandy-Walker malformation, Anteverted nar... OMIM:617822
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Prominent nasal bridge, Hypo... ORPHA:2673
Temtamy Syndrome
Highly arched eyebrow, Micrognathia, Lop ear, Hip dislocation, Thick corpus callosum, Hypoplasia ... OMIM:218340
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Abnormality of the hand, Short neck, B... ORPHA:369891
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Ulnar claw, Hammertoe, Split hand, Kyphoscoliosis OMIM:118200
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... OMIM:601812
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Alopecia, Abnormal dental en... ORPHA:1005
Spastic Paraplegia 17, Autosomal Dominant
Thenar muscle weakness, Split hand, Thenar muscle atrophy OMIM:270685
Abruzzo-Erickson Syndrome
Toe syndactyly, Short toe, Sensorineural hearing impairment, Cleft palate, Ulnar deviation of fin... ORPHA:921
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ... OMIM:129900
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Sandal gap, Micrognathia, Cupped ear, 2-3 toe syndactyly, Small thenar emi... OMIM:618914
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Microcephaly ORPHA:293
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Femoral bowing, Tibial bo... OMIM:304120
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
Split hand OMIM:246555
Cardiospondylocarpofacial Syndrome
High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Conductive hearing impair... ORPHA:3238
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Short neck, Mi... OMIM:616038
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Joint dislocation, Toe syndactyly, Death in infancy, Camptodact... ORPHA:2008
Rapp-Hodgkin Syndrome
Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Bifid uvula, Syndactyly, De... OMIM:129400
Holoprosencephaly 9
Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Abnormal cortical g... OMIM:610829
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... OMIM:114300
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Micrognathia, Postaxial polydactyly, ... OMIM:617866
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal limb epiphysis morphology, Kyphoscoliosis, Prominent nose, Metaphyseal sclerosis, Abnorm... ORPHA:2976
Marshall Syndrome
Cerebral calcification, Anteverted nares, Depressed nasal bridge, Sparse eyelashes, Micrognathia,... ORPHA:560
Trisomy 9P
Bilateral single transverse palmar creases, Short neck, Abnormal nasal morphology, Kyphosis, Micr... ORPHA:236
Stuve-Wiedemann Syndrome 1
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibia... OMIM:601559
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Depressed nasal bridge, Arachnodactyly, Abnormal pinna morphology, ... OMIM:614437
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Prominent nose, High, n... OMIM:180849
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Micrognathia, Bowing of the legs, Short neck, Depressed nasal ridge, Triangular shape... OMIM:271665
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... ORPHA:2347
Bent Bone Dysplasia Syndrome 1
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Short clavicles, Low-set ears,... OMIM:614592
Distal Xq28 Microduplication Syndrome
Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Metatarsus adductus, Microcephaly, Recurre... ORPHA:293939
Kabuki Syndrome 2
Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Highly arched eyebrow, Short... OMIM:300867
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Pycnodysostosis
Persistent open anterior fontanelle, Delayed eruption of primary teeth, Persistence of primary te... OMIM:265800
Ritscher-Schinzel Syndrome 1
Syndactyly, Depressed nasal bridge, Micrognathia, Hydrocephalus, Hemivertebrae, Cleft palate, Low... OMIM:220210
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ... OMIM:604292
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypoplastic nipples, Camptodacty... OMIM:603543
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... OMIM:618435
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Thick hair, Optic nerve hypoplasia, Micrognathia, Synophrys, Hypertrichosis, Hip dysplasia, Long ... OMIM:618381
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Trisomy 20P
Micrognathia, Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Protrudin... ORPHA:261318
Anauxetic Dysplasia 1
Mandibular prognathia, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic... OMIM:607095
Genitopalatocardiac Syndrome
Micrognathia, Microcephaly, Kyphosis, Hydrocephalus, Postaxial hand polydactyly, Wide nasal bridg... ORPHA:2075
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact... ORPHA:380
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Macrotia, Anal atresia ORPHA:93950
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Bohring-Opitz Syndrome
Joint dislocation, Micrognathia, Low anterior hairline, Hypoplasia of the brainstem, Agenesis of ... OMIM:605039
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis, Split hand, Hammertoe, Scoliosis, Ulnar claw OMIM:145900
Saul-Wilson Syndrome
Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, He... OMIM:618150
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Low anterior hairline, Coronal craniosynostosis, Coarse hair, Abnormal... ORPHA:2095
Hypoglossia-Hypodactylia
Micrognathia, Adactyly, Split hand, Aglossia, Microglossia, Retrognathia OMIM:103300
Achondroplasia
Bowing of the legs, Femoral bowing, Choanal stenosis, Narrow greater sciatic notch, Conductive he... OMIM:100800
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnorm... ORPHA:2462
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Sparse scalp hair, Arachnodactyly, Malar prominence, Long nose, Micrognathia, Cone-shaped epiphys... ORPHA:2824
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Tapered finger, Short 3rd toe, Short thumb, Dysplastic corpus callosum, Split hand, Low... OMIM:618569
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,... OMIM:616007
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Hyperextensibility of the finger joints, Arachnodactyly, Prominent nasal bri... OMIM:309520
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Synophrys, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metaca... ORPHA:1295
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Sparse scalp hair, Single transverse palmar crease, Microcephaly, Adducted thumb, Notched primary... OMIM:620062
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... OMIM:300963
Trichorhinophalangeal Syndrome, Type I
Micrognathia, Osteoarthritis, Short metatarsal, Protruding ear, Cone-shaped epiphyses of the prox... OMIM:190350
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Trisomy 8P
Short fourth metatarsal, Single transverse palmar crease, Short neck, Clinodactyly of the 5th fin... ORPHA:264450
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Redundant neck skin, Single transverse palmar crease, Micrognathia, Hypopl... ORPHA:96334
Otodental Syndrome
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Anteverted nares, Abn... ORPHA:2791
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... OMIM:130000
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Microcephaly, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia ... ORPHA:280
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, High palate, Conduc... ORPHA:861
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Death in infancy, Cerebellar vermis hypoplasia, Anteverted nares, Highly ... OMIM:619135
Frontometaphyseal Dysplasia
Subglottic stenosis, Single transverse palmar crease, Limited elbow movement, Micrognathia, Metap... ORPHA:1826
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Scoliosis, Clinodactyly of... ORPHA:376
Bor Syndrome
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... ORPHA:107
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Arachnodactyly, Sandal gap, Intestinal malrotation, Carious teeth,... OMIM:617602
Carey-Fineman-Ziter Syndrome
Laryngeal stenosis, Cerebral calcification, Anteverted nares, Aplasia/Hypoplasia of the tongue, M... ORPHA:1358
Feingold Syndrome
Hallux valgus, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Microcepha... ORPHA:1305
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Abnormality of the nose, Sensorineural hearing impa... ORPHA:3152
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology ORPHA:1078
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Hearing impairment, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adduct... OMIM:614257
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... ORPHA:1350
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Sp... ORPHA:392
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger, Scoliosis, Brachydactyly ORPHA:1937
Keipert Syndrome
Wide nose, Broad hallux, Prominent nose, Sensorineural hearing impairment, Broad distal phalanx o... OMIM:301026
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Small earlobe, Micrognathia, Hypoplasia of the maxilla, Elbow dislocatio... OMIM:613805
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... OMIM:601224
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Abnormal pinna morphology, Single transverse pal... OMIM:123450
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Single transverse palmar crease, Limited elbow movement, Micrognathia, Proximal placement of thum... OMIM:610759
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Syndactyly, Microcephaly, Anteverted ears, Clinodactyly, Cerebellar hypopl... OMIM:618087
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Rhizomelia, Poste... ORPHA:171866
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl... OMIM:113300
Orofaciodigital Syndrome I
Dry hair, Porencephalic cyst, Lobulated tongue, High palate, Sparse hair, Agenesis of corpus call... OMIM:311200
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Limb undergrowth, Overhanging nasa... OMIM:619142
Orofaciodigital Syndrome Xviii
Brachydactyly, Sandal gap, Single transverse palmar crease, Prominent nasal bridge, Postaxial pol... OMIM:617927
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
15Q24 Microdeletion Syndrome
Broad eyebrow, Depressed nasal bridge, Prominent nasal bridge, Proximal placement of thumb, Micro... ORPHA:94065
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Hand muscle weakness, Split hand, Intrinsic hand muscle ... ORPHA:101097
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... ORPHA:199306
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly, Death in infancy, Carious teeth, Pyloric stenosis, Nail dystrophy, Enamel hypoplasia OMIM:226700
20Q11.2 Microdeletion Syndrome
Brachydactyly, Hearing impairment, Abnormality of the ear, Finger clinodactyly, Camptodactyly, Ad... ORPHA:444051
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Supernumerary nipple, Hypoplasia of the maxilla, Absent eyelashes, Wide nasal b... OMIM:106260
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Po... OMIM:612284
Fountain Syndrome
Craniofacial hyperostosis, Brachydactyly, Coarse metaphyseal trabecularization, Metaphyseal dyspl... ORPHA:3219
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Hyperplasia of the maxilla OMIM:613671
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Basal ganglia ca... OMIM:103580
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Symphalangism, Proximal, 1A
Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:185800
Atelosteogenesis Type I
Joint dislocation, Laryngeal stenosis, Short femur, Rhizomelia, Micrognathia, Malrotation of colo... ORPHA:1190
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o... OMIM:119600
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Subglottic stenosis, Metaphyseal widening, Coxa vara, Thoracic kyphosis, L... OMIM:271510
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig... ORPHA:3258
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Micrognathia, Avascular necrosis of ... ORPHA:77258
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Choanal stenos... OMIM:620186
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Anteverted nares, Posteriorly rotated ears, Highly arched eyebrow, Abnormal pi... ORPHA:228396
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... ORPHA:2256
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... ORPHA:3236
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... OMIM:206920
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Microcephaly, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Abn... ORPHA:2399
Summitt Syndrome
Finger syndactyly, Wide nose, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis,... ORPHA:3210
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corp... OMIM:615948
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Prominent nasal bridge, Highly arched eyebrow, Tapered finger, Hypoplasia ... OMIM:609460
Smith-Mccort Dysplasia 2
Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Sho... OMIM:615222
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma, Sparse hair, Enamel hypoplasia, Macrotia OMIM:613576
Waardenburg Syndrome Type 1
Mandibular prognathia, Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White ey... ORPHA:894
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Abnormal pinna morphology, Perianal abscess, Widow's peak, Small hand, Wide nasal bridge, Overfol... OMIM:614684
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Long nose, Low anterior hairline, Partial duplication of the distal ph... OMIM:101400
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Protruding ear, Sparse hair, Dystrophic fin... ORPHA:3253
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Cubitus valgus, Wide nasal bridge, Genu valgum, Low posterior hairline, Pr... ORPHA:1778
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Anteverted nares, Single transverse palmar crease, Hearing im... OMIM:610253
Triploidy
Low-set, posteriorly rotated ears, Finger syndactyly, Intestinal malrotation, Micrognathia, Short... ORPHA:3376
Tetralogy Of Fallot
Abnormal nasal morphology, Clinodactyly of the 5th finger, Brachydactyly ORPHA:3303
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Brachydactyly, Microcephaly, Short distal phalanx of finger ORPHA:2787
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Frontal balding, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Macr... ORPHA:93945
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... OMIM:617396
Kagami-Ogata Syndrome
Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla... OMIM:608149
Cerebrofacioarticular Syndrome
Syndactyly, Anal stenosis, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the maxilla,... ORPHA:314679
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Syn... OMIM:213980
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Micrognathia, Preaxial polydactyly, Finger clinodactyly, Lobulated ... ORPHA:2754
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Preaxial hand polydacty... OMIM:175700
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Hemivertebrae, Cuta... OMIM:224690
Witteveen-Kolk Syndrome
Glue ear, Proximal placement of thumb, Uplifted earlobe, High, narrow palate, Cortical dysplasia,... OMIM:613406
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Redundant neck skin, Cerebellar vermis hypoplasia, Micrognathia, Proxima... ORPHA:397715
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Prominent nose, Short metatarsal, Sparse hair, Short metacarpal, Rhizomeli... OMIM:614813
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Posteriorly rotated ears, Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Mac... OMIM:618392
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Underdeveloped nasal alae, Prominent nose, Microcephaly, Sensorineural hearing impair... ORPHA:2637
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodact... ORPHA:1788
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Neonatal death, Mitten... OMIM:609638
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... ORPHA:93308
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Andersen-Tawil Syndrome
Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathi... ORPHA:37553
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Alopecia totalis, Underdeveloped nasal alae, Aplasia/Hypoplasi... ORPHA:1234
17Q24.2 Microdeletion Syndrome
Otosclerosis, Thick eyebrow, Micrognathia, Short neck, Synophrys, Upper limb undergrowth, Wide na... ORPHA:529962
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Deviation of the thumb, High palate, Finger syndactyly, Broad hallux phalanx... ORPHA:93259
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the hand, Supernumerary tooth, Sparse hair, Uncombable hair, Short 5th metacarpal,... ORPHA:1264
7Q31 Microdeletion Syndrome
Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Hypoplasia of the cochl... ORPHA:251061
Short Stature With Microcephaly And Distinctive Facies
Microretrognathia, Syndactyly, Brachydactyly, Sparse scalp hair, Depressed nasal bridge, Antevert... OMIM:615789
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Antev... ORPHA:59315
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hypoplasia of ... OMIM:276820
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Premature... OMIM:113620
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Macrotia, Cleft palate, F... OMIM:616462
Bardet-Biedl Syndrome 18
Brachydactyly OMIM:615995
Tarp Syndrome
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, High p... OMIM:311900
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteve... OMIM:618961
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Sandal gap, Supernumerary nipple, Hydr... ORPHA:1812
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... ORPHA:3103
Zechi-Ceide Syndrome
Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Underdeveloped nasal alae, Short metatarsal,... OMIM:612916
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent metopic ridge, Small earlobe, Prominent nasal bridge, Hearing impairment, Underdevelope... ORPHA:364577
Frank-Ter Haar Syndrome
Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, Protruding ear, High... OMIM:249420
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Posteriorly rotated ears, Abnormal cortic... ORPHA:2211
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Limited pronati... ORPHA:163654
Barber-Say Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat... OMIM:209885
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Broad hallux, Sandal gap, Persistence of primary teeth, Scarring alopecia of scalp, Clinodactyly,... OMIM:618727
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation OMIM:264270
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Toe syndactyly, Sensorineural hearing impairment, Absent middle phalanx of 5th finger, Nail dystr... OMIM:124480
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Basal ganglia ca... OMIM:612462
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Craniosynostosis, Underdeveloped nasal... ORPHA:166035
Treacher Collins Syndrome 2
Microretrognathia, Micrognathia, Fusion of middle ear ossicles, Microtia, Hypoplasia of the zygom... OMIM:613717
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies,... ORPHA:233
Roifman Syndrome
Hip contracture, Short metacarpal, Biconvex vertebral bodies, Anteverted nares, Single transverse... OMIM:616651
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Hypertrichosis, Platyspondyly, Scoliosis, Narro... OMIM:601216
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of the ulna, Camptodactyly of fi... ORPHA:246
Roifman Syndrome
Narrow nasal bridge, Hip contracture, Brachydactyly, Epiphyseal dysplasia, Biconvex vertebral bod... ORPHA:353298
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Cleft palate, Slender long bone, Retrognathia, Brachydactyly OMIM:618265
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Cleft palate, Abno... ORPHA:3429
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... ORPHA:429
White-Sutton Syndrome
Mandibular prognathia, Micrognathia, Short neck, High palate, Sparse hair, Hypoplastic cervical v... OMIM:616364
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Abnorma... ORPHA:1825
Blepharo-Cheilo-Odontic Syndrome
Abnormal hair quantity, Finger syndactyly, Carious teeth, Bilateral cleft lip and palate, Conduct... ORPHA:1997
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, Cutaneous fi... OMIM:211380
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Femoral bowing p... OMIM:166220
Pseudoachondroplasia
Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fragmente... OMIM:177170
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Thanatophoric Dysplasia Type 2
Encephalocele, Depressed nasal bridge, Micromelia, Hearing impairment, Kyphosis, Hydrocephalus, I... ORPHA:93274
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphoscoliosis, Pa... OMIM:109400
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Cerebral white matter atrophy, Proximal placement of thumb, Prominent nose... ORPHA:435638
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Intestin... OMIM:113650
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hand muscle atrophy, Short third metatarsal, Thoracic scoliosis, Camptodactyly of finger, Split h... ORPHA:324442
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Clinodactyly, Femoral bowing, Anteriorly placed anus, Choanal stenosis, Cond... ORPHA:95699
Fibrochondrogenesis
Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Micromelia, Camptodactyly of fing... ORPHA:2021
Eiken Syndrome
Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Clinodactyly, ... OMIM:600002
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Kyph... OMIM:231070
Thanatophoric Dysplasia
Depressed nasal bridge, Micromelia, Hearing impairment, Abnormal sacroiliac joint morphology, Hyd... ORPHA:2655
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu... OMIM:619143
Chromosome 2Q37 Deletion Syndrome
Wide nose, Short fourth metatarsal, Depressed nasal bridge, Anteverted nares, Short metacarpal, B... OMIM:600430
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... OMIM:120400
Pallister-Hall Syndrome
Hemivertebrae, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Distal shortening of li... OMIM:146510
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Brittle hair, Prominent nasal bridge, Hypoplasia of the max... ORPHA:50814
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Hearing impairment, Abnormality of ... ORPHA:1856
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Short neck, Anteriorly placed anus, Short phalanx of finger, Syndactyly, Anteverted... OMIM:616894
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Delayed closure of the anterior fontanelle, Micrognathia, Wide anterior fontanel, Short toe, Recu... OMIM:225410
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Hearing impairment, Brachydactyly ORPHA:35099
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... OMIM:185700
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Bulbous nose, Cone-shaped epiphysis, ... OMIM:102370
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... ORPHA:3320
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Arachnodactyly, Camptodacty... ORPHA:83
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... ORPHA:2975
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, Short toe, Sy... OMIM:620072
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Osteogenesis Imperfecta, Type I
Otosclerosis, Biconcave flattened vertebrae, Femoral bowing, Hip dysplasia, Finger joint hypermob... OMIM:166200
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Hemiver... OMIM:212780
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Fg Syndrome Type 1
Single transverse palmar crease, Prominent nose, Micrognathia, High palate, Finger syndactyly, Ma... ORPHA:93932
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Kyphoscoliosis, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bo... OMIM:600384
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... OMIM:300106
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor... ORPHA:570
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Abnormal hair morphology, Preaxial... ORPHA:64754
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Prominent metopic ridge, Craniosynostosis, Underdeveloped nasal alae, Microcephaly, Increased nuc... ORPHA:453499
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... ORPHA:93384
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Sparse eyelashes, Craniosynostosis, Under... OMIM:250410
Flat Face-Microstomia-Ear Anomaly Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Highly arched eyebrow, Micrognathia, ... ORPHA:1968
Fgfr2-Related Bent Bone Dysplasia
Overfolding of the superior helices, Natal tooth, Hypoplastic ischia, Bowing of the legs, Microgn... ORPHA:313855
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinoda... OMIM:274000
Distal Duplication 5Q
Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, Ab... ORPHA:96097
Chromosome 17P13.1 Deletion Syndrome
Diffuse cerebral atrophy, Proximal placement of thumb, Short neck, High, narrow palate, Synophrys... OMIM:613776
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Larsen Syndrome
Finger syndactyly, Brachydactyly, Depressed nasal bridge, Short nail, Large joint dislocations, C... ORPHA:503
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral e... OMIM:143095
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Prominent nasal bridg... OMIM:614424
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Conductive hearing impairment, Advanced eruption of teeth, Promi... ORPHA:2215
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Crouzon Syndrome
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hydrocephalus, High ... OMIM:123500
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Low anterior hairline, Coarse hair, ... ORPHA:955
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Prominent nose, Microg... OMIM:210710
Okur-Chung Neurodevelopmental Syndrome
Anteverted nares, Single transverse palmar crease, Broad hallux, Micrognathia, Protruding tongue,... OMIM:617062
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
High anterior hairline, Prominent antitragus, Sparse lateral eyebrow, Brachydactyly OMIM:618879
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... OMIM:151050
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... ORPHA:63260
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Anteverted nares, Single transverse palmar... ORPHA:2332
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... ORPHA:508488
Mend Syndrome
Thickened nuchal skin fold, Broad hallux, Prominent nasal bridge, Overlapping toe, Micrognathia, ... ORPHA:401973
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Micrognathia, High palate, Synostosis of... ORPHA:221120
Intellectual Developmental Disorder, Autosomal Recessive 78
Microretrognathia, Kyphoscoliosis, Microcephaly, Sensorineural hearing impairment, High palate, C... OMIM:620237
Lateral Meningocele Syndrome
Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bodies, High palate... ORPHA:2789
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patellar aplasia, Slender... OMIM:613804
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormal finger morphology, Phocomelia, Microgastria, Agenesis o... ORPHA:2538
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Long nose, Thoracolumbar kyphosis, Narrow greater sciatic n... ORPHA:508533
Orofaciodigital Syndrome Type 14
Short neck, Partial agenesis of the corpus callosum, Aplasia of the epiglottis, Lobulated tongue,... ORPHA:434179
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Prominent nasal bridge, Thickened helices, Mi... ORPHA:1587
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Short neck, Hypoplastic iliac wing, Pterygium, Short pha... OMIM:263650
Peters-Plus Syndrome
Single transverse palmar crease, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla,... OMIM:261540
Mosaic Trisomy 1
Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Finger clinoda... ORPHA:1692
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Prominent nose, Long nose, Micrognathia, Short neck, Abnormal finger morphology, Abno... ORPHA:2636
2q37 monosomy
Brachydactyly DECIPHER:44
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Thick eyebrow, Depressed nasal bridge, Single transverse palmar crease, Hearing impairment, Broad... ORPHA:466950
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Sparse hair... OMIM:139210
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Arachnodactyly, Intestinal pseudo-obstruction, Cerebral calcif... ORPHA:73246
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Spa... OMIM:268300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Depressed nasal bridge, Megalencephaly, Hydrocephalus, Large earlobe, Polydactyly, Ca... OMIM:602501
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Alopecia, Brittle hair, Narrow nasal ridge, Micrognathia, Hypoplasia of... OMIM:608612
Orofaciodigital Syndrome Type 1
Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Clinodactyly of the 5th f... ORPHA:2750
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clinodactyly of the 5th fin... ORPHA:2554
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Depressed nasal bridge, Thickened helices, Hypoplasia of ... OMIM:608328
Short Syndrome
Alopecia, Abnormal dental enamel morphology, Abnormal zygomatic bone morphology, Sensorineural he... ORPHA:3163
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Intestinal malrotat... ORPHA:457193
Multiple Synostoses Syndrome 4
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly OMIM:617898
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Fi... OMIM:614800
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Prominent nasal bridge, Microcephaly, Long nose, Cleft palate, Short long bone, Sco... OMIM:619184
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Clinodactyly of the 5th finger, Wide nose, Hypoplasia of the zygomatic bone, Anteverted nares ORPHA:3074
Distal Deletion 19P
Long toe, Low-set, posteriorly rotated ears, Alopecia, Arachnodactyly, Hypoplasia of the maxilla,... ORPHA:96129
Hamamy Syndrome
Micrognathia, High palate, Sparse hair, Clinodactyly of the 5th finger, Abnormal number of hair w... OMIM:611174
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Kyphoscol... ORPHA:488642
Toluene Embryopathy
Tapered finger, Microcephaly, Micrognathia, Protruding ear, Hypoplasia of the zygomatic bone, Low... ORPHA:1920
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... ORPHA:957
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Anteverted nare... OMIM:619879
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
Ayme-Gripp Syndrome
Mandibular prognathia, Broad eyebrow, Sparse scalp hair, Depressed nasal bridge, Delayed cranial ... OMIM:601088
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic ... ORPHA:1512
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Tapered finger, Megalencephaly, ... OMIM:613603
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Micrognathia, Short neck, Short metatarsal, High palate, Clinodactyly of the 5th finger, Short ph... OMIM:266920
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Micrognathia, Hyperlordosis, Narrow palate, Low poste... ORPHA:1323
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Single transverse palmar crease, High, narrow palate, Cavum septum pelluci... ORPHA:464738
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Subcortical cerebral atrophy, Sparse hair, Agenesis of corpus callosum, Abnormal vertebral morpho... ORPHA:2273
Kury-Isidor Syndrome
Finger syndactyly, Alopecia, Anteverted nares, Rocker bottom foot, Proximal placement of thumb, S... OMIM:619762
Neu-Laxova Syndrome
Cerebral calcification, Micromelia, Micrognathia, Depressed nasal ridge, Pterygium, Pachygyria, B... ORPHA:2671
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Postaxial hand p... ORPHA:65759
Orofaciodigital Syndrome Type 2
Micrognathia, Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Sh... ORPHA:2751
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge... OMIM:601499
Combined Oxidative Phosphorylation Deficiency 2
Redundant neck skin, Low-set ears, Neonatal death, Agenesis of corpus callosum, Brachydactyly OMIM:610498
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, 4-5 toe... OMIM:613573
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
15q26 overgrowth syndrome
Mandibular prognathia, Prominent nose, Micrognathia, Short neck, Abnormal finger morphology, High... DECIPHER:81
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... ORPHA:2549
Silver-Russell Syndrome 3
Syndactyly, Small hand, Antecubital pterygium, Low-set ears, Clinodactyly of the 5th finger, Retr... OMIM:616489
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Dry hair, Hypopigmentation of hair, Anteverted nares, Prominent nasal bridge, ... ORPHA:1974
Acalvaria
Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Holoprosencephaly, Aplasia... ORPHA:945
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Supernumerary nipple, Underdevelop... ORPHA:217346
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Microcephaly, C... ORPHA:1110
Prolidase Deficiency
Depressed nasal bridge, Arachnodactyly, Hearing impairment, Micrognathia, Carious teeth, Depresse... ORPHA:742
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Depressed nasal bridge... OMIM:151210
Hallermann-Streiff Syndrome
Micrognathia, High, narrow palate, Metaphyseal widening, High palate, Sparse hair, Spina bifida, ... OMIM:234100
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Microcephaly, Kyphosis,... ORPHA:3121
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Coxa vara, Abnormal for... ORPHA:3107
Macs Syndrome
Alopecia, Single transverse palmar crease, Micrognathia, Sparse eyebrow, Diffuse white matter abn... OMIM:613075
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Underdeveloped nasal alae, Micrognathia, Short neck, Sensorineural ... OMIM:614230
Radio-Renal Syndrome
Depressed nasal bridge, Micromelia, Micrognathia, Short neck, High, narrow palate, Hypoplasia of ... ORPHA:3015
Mosaic Trisomy 9
Micromelia, Micrognathia, Short neck, Hemivertebrae, Finger clinodactyly, High palate, Dandy-Walk... ORPHA:99776
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Avascular necrosis of the capital... OMIM:132400
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Supernumerary ni... OMIM:263750
Craniosynostosis 2
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Triphalangeal thu... OMIM:604757
Prader-Willi Syndrome Due To Translocation
Micrognathia, Prominent nose, Short neck, High palate, Clinodactyly of the 5th finger, Bifid uvul... ORPHA:177907
Lathosterolosis
Prominent metopic ridge, Toe syndactyly, Anteverted nares, Cerebral calcification, Micrognathia, ... ORPHA:46059
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, P... OMIM:227330
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Conductive hearing impairment, Short phalanx of fi... OMIM:132450
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Prominent nose, Microcephaly, Wide nasal bridge, Symphalangism affecting the phalanges of the han... ORPHA:1292
Congenital Disorder Of Glycosylation, Type Iic
Microcephaly, Bulbous nose, Widow's peak, Short foot, Recurrent otitis media, Cerebral cortical a... OMIM:266265
Cardiofaciocutaneous Syndrome
Brittle hair, Short neck, High palate, Sparse hair, Thickened helices, Dystrophic fingernails, Lo... ORPHA:1340
Carpenter Syndrome 2
Single transverse palmar crease, Short neck, High, narrow palate, Preaxial polydactyly, Low anter... OMIM:614976
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Short neck, Knee flexion contracture, High palate, Intercrural pterygium, Camptodac... OMIM:265000
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... ORPHA:249
Silver-Russell Syndrome 1
Syndactyly, Micrognathia, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger,... OMIM:180860
Weyers Acrofacial Dysostosis
Postaxial hand polydactyly, Postaxial foot polydactyly, Prominent antihelix, Short palm, Clinodac... OMIM:193530
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... OMIM:119100
Meier-Gorlin Syndrome 3
Microretrognathia, Posteriorly rotated ears, Prominent nasal bridge, Sparse axillary hair, Microg... OMIM:613803
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Brachydactylous Dwarfism, Mseleni Type
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Platyspond... ORPHA:2619
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Anteverted nares, Posteriorly rotated ears, Hearing impairment, Broad nasal tip, Basal ganglia ca... OMIM:617763
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Abnormality of the mi... ORPHA:949
Erythrokeratodermia Variabilis
Alopecia, Hearing impairment, Tapered finger, Abnormal hair morphology, Microcephaly, Patchy palm... ORPHA:317
Robinow Syndrome
Micrognathia, Hemivertebrae, High anterior hairline, Fused thoracic vertebrae, Syndactyly, Anteve... ORPHA:97360
Alg3-Cdg
Cerebral white matter atrophy, Abnormal pinna morphology, Abnormality of the nose, Hypoplasia of ... ORPHA:79321
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Spina bifida, Short neck, Cleft palate, Low posterior hairline, ... ORPHA:2345
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Rocker bottom foot, Hearing impairment, Tapered finger, Posteriorly rotat... OMIM:601353
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Clinodactyly, Hypoplastic pubic bone, C... OMIM:184250
Fontaine Progeroid Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, High, narrow palate, Synophrys... OMIM:612289
Stickler Syndrome
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge... ORPHA:828
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Brachydactyly OMIM:614526
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
2Q37 Microdeletion Syndrome
Short neck, Short palm, Clinodactyly of the 5th finger, Conductive hearing impairment, Broad colu... ORPHA:1001
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Anteverted nares, Depressed nasal bridge, Choanal atresia, Craniosynostosis, Palmoplantar cutis g... ORPHA:1555
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Cutaneous finger syndactyly, Protein-losing enteropathy, Short ... OMIM:235510
Lateral Meningocele Syndrome
Vertebral fusion, Posteriorly rotated ears, Micrognathia, Short neck, Kyphosis, Hydrocephalus, Me... OMIM:130720
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Prominent nasal bridge, Broad palm, Hy... OMIM:618505
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hea... OMIM:122880
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Microme... ORPHA:2639
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Dental malocclusion, Wide nasal bridge... OMIM:269500
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Thoracic kyphosis, Short pal... ORPHA:508498
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... ORPHA:93258
Heart-Hand Syndrome, Spanish Type
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly OMIM:140450
Oculodentodigital Dysplasia
Dry hair, Basal ganglia calcification, High palate, Joint contracture of the 5th finger, Sparse h... OMIM:164200
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges... OMIM:601356
Orofaciodigital Syndrome Viii
Syndactyly, Broad nasal tip, Bifid nasal tip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Short neck, Hypoplasia of the maxilla, Upper limb perome... ORPHA:1299
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Depressed nasal bridge, Hypoplasia of the maxilla, Broad palm, Narrow palat... OMIM:277600
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Conductive hearing impairment, Short pha... OMIM:600373
Acrofacial Dysostosis 1, Nager Type
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Aqued... OMIM:154400
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... OMIM:211960
Cleft Velum
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi... ORPHA:99772
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Micrognathia, Microcephaly, Kyphosis, Cleft palate, Protruding ear,... OMIM:619123
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly ... ORPHA:2886
Hypomelanosis Of Ito
Syndactyly, Alopecia, Microcephaly, Kyphosis, Cerebral atrophy, Hand polydactyly, Scoliosis, Radi... OMIM:300337
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Cleft palate, Webbed neck, Clinodactyly of th... OMIM:244600
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Underdeveloped nasal alae, Microcephaly, Kyphosis, Limited elbow ex... OMIM:180870
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Hearing abnormality, Humeroradial synostosis, Progressive fusion 2nd-5th pip j... OMIM:186570
Maternal Phenylketonuria
Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, Microcepha... ORPHA:2209
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hearing impairment, Hypoplasia o... ORPHA:2588
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Broad nasal tip, Microcephaly, Synophrys, 2-3 toe syndactyly, ... ORPHA:3306
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Holoprosencephaly 2
Aplasia of the nasal bone, Median cleft lip and palate, Aplasia of the premaxilla, Proboscis, Alo... OMIM:157170
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Sensorineural hearing impairment, Split hand, Absent hand, Oligodactyly ORPHA:2440
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Protruding ear, Palmoplantar k... ORPHA:2251
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Co... OMIM:118650
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... ORPHA:968
Coffin-Siris Syndrome 7
Sparse scalp hair, Wide nose, Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis... OMIM:618027
Progeria-Short Stature-Pigmented Nevi Syndrome
Thoracic scoliosis, Alopecia, Micrognathia, Microcephaly, Dental malocclusion, Low posterior hair... ORPHA:2959
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Choanal atresia, Spina bifida, Abnormal nasal morphology, Apla... ORPHA:1104
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Abnormal hand morphology, Small hand, Premature graying of hair, Broad finger, Low-set... OMIM:300845
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Sandal gap, Malar prominence, Large earlobe, Hypoplasia of the zygomatic b... ORPHA:2715
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattening, Coronal cr... OMIM:241310
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia OMIM:601809
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag... ORPHA:3016
Adnp Syndrome
Single transverse palmar crease, Abnormal finger morphology, Protruding ear, Advanced eruption of... ORPHA:404448
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... ORPHA:1275
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Microcephaly, Small hand, Narrow palm, Holoprosencephaly, S... ORPHA:1445
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B... OMIM:618618
Jeune Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Camptodactyly of... ORPHA:568
6P22 Microdeletion Syndrome
Finger syndactyly, Short neck, Hydrocephalus, Overfolded helix, Low-set ears, Clinodactyly, Heari... ORPHA:251046
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Knee... ORPHA:468631
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti... OMIM:164210
Lethal Acantholytic Erosive Disorder
Natal tooth, Absent eyebrow, Abnormal pinna morphology, Absent eyelashes, 4-5 finger syndactyly, ... ORPHA:158687
Autosomal Recessive Multiple Pterygium Syndrome
Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of the hand, Vertebral seg... ORPHA:2990
Desbuquois Dysplasia 2
Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Knee dislocation, S... OMIM:615777
Oliver Syndrome
Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Microcephaly, Short toe, Po... ORPHA:2920
Leri Pleonosteosis
Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal... ORPHA:2900
Developmental And Epileptic Encephalopathy 95
Short fourth metatarsal, Brachydactyly, Posteriorly rotated ears, Single transverse palmar crease... OMIM:618143
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Ace... OMIM:617405
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Alg6-Cdg
Shortening of all distal phalanges of the fingers, Macroglossia, Protein-losing enteropathy, Cere... ORPHA:79320
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratos... OMIM:615108
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Triphalangeal thumb, Abno... ORPHA:2378
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Redundant neck skin, Short neck, H... ORPHA:93333
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Short metatarsal, Tibial bowing, Tarsometatarsal synostosis, Abnormal v... OMIM:600383
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Bilateral single transverse palmar creases,... ORPHA:2377
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Ankle clonus, L... OMIM:619995
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... OMIM:187601
Sillence Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adduc... ORPHA:3168
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Hearing impairment, Brachydactyly OMIM:610023
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... OMIM:607326
Au-Kline Syndrome
Vertebral segmentation defect, High palate, Clinodactyly of the 5th finger, Bifid uvula, Prominen... OMIM:616580
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Intellectual Developmental Disorder, Autosomal Dominant 59
Highly arched eyebrow, Protruding ear, Short foot, Low-set ears, Short palm, Brachydactyly OMIM:618522
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... ORPHA:3472
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Wide nose, Camptodactyly of finger, Underdeveloped nasal alae, Micrognathia, S... ORPHA:284160
Heyn-Sproul-Jackson Syndrome
Short metacarpal, Microcephaly, Sparse hair, Broad phalanx, Short phalanx of finger, Broad metaca... OMIM:618724
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Microcephaly, Scoliosis, Hypoplasia of the corpus callosum, Cerebral white matter hyp... OMIM:619091
Jacobsen Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Short neck, Pyloric stenosis, Hydrocephal... OMIM:147791
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Depressed nasal bridge, Anteverted nares, Overlapping toe, Prominent nose, Intestinal m... OMIM:618316
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Absent septum pellucidum, Microcephaly, Conductive hearing impairment, Se... OMIM:618500
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Cerebral calcification, Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morp... ORPHA:3145
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Ablepharon Macrostomia Syndrome
Absent eyebrow, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger... ORPHA:920
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Brachydactyly, Prominent nasal bridge, Intestinal malrota... ORPHA:401935
Faciocardiomelic Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Cuboid-shaped vertebral bod... OMIM:612731
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ... ORPHA:2928
Blepharocheilodontic Syndrome 1
Choanal atresia, High anterior hairline, Cutaneous syndactyly, Neural tube defect, Sparse hair, C... OMIM:119580
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Depressed nasal bridge, Single transv... OMIM:617425
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Laryngeal stenosis, Short metacarpal, Enlarged interphalangeal joints, Genu recurv... OMIM:151200
Acrofrontofacionasal Dysostosis
Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Cleft palate, High palate, A... ORPHA:1784
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Depressed nasal bridge, Aplasia/Hypoplasia of the cerebellum, Kyphoscoliosis, Hypoplasia of the p... ORPHA:397709
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratos... OMIM:615109
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Protruding ear, High palate, Depressed nasal bridge, Tapered finger, Scoliosis, Low... OMIM:309590
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, A... ORPHA:1101
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sagittal cranios... OMIM:614099
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Finger syndactyly, Anteverted nares, Depressed nasal bridge, C... ORPHA:2311
Down Syndrome
Thickened nuchal skin fold, Brachydactyly, Depressed nasal bridge, Sandal gap, Aganglionic megaco... ORPHA:870
Summitt Syndrome
Syndactyly, Craniosynostosis OMIM:272350
Peripheral Dysostosis
Clinodactyly of the 5th finger, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the han... ORPHA:1795
Floating-Harbor Syndrome
Prominent nose, Short middle phalanx of the 2nd finger, Short neck, Clinodactyly of the 5th finge... OMIM:136140
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Vacterl With Hydrocephalus
Microtia, third degree, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal atresia, Hydr... ORPHA:3412
Craniofrontonasal Syndrome
Short neck, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Broad hallux, Wide nasal... OMIM:304110
Al-Raqad Syndrome
Sandal gap, Microcephaly, Low-set ears, Short nose, Brachydactyly OMIM:616459
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Cranioectodermal Dysplasia 1
Single transverse palmar crease, High, narrow palate, Protruding ear, High palate, Sparse hair, R... OMIM:218330
Split Lower Lip
Narrow maxilla OMIM:183400
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Macroglossia, Secondary micr... OMIM:105830
Nicolaides-Baraitser Syndrome
Dry hair, Enlarged joints, Single transverse palmar crease, High, narrow palate, Short metatarsal... OMIM:601358
Phaver Syndrome
Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Posteriorly rotated ears, ... ORPHA:2876
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Sparse eyelashes, Abnormal dental enamel morphology... ORPHA:1071
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Brachydactyly, Abnormal hair pattern, Cleft palate, Large hand... ORPHA:1770
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Wide nose, Camptodactyly of finger, Sensorineural hearing impairment, Recurrent upp... ORPHA:217093
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Axenfeld-Rieger Syndrome
Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Hearing impa... ORPHA:782
Zttk Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, High palate, Bifid uvula, Depressed nas... OMIM:617140
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Reduced cerebral white matter volume, Uplifted earlobe, Palmoplantar hyperkeratosis, Sparse hair,... OMIM:280000
Developmental And Epileptic Encephalopathy 100
Depressed nasal bridge, Single transverse palmar crease, Broad nasal tip, Micrognathia, Protrudin... OMIM:619777
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratos... OMIM:158350
Amish Lethal Microcephaly
Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Micrognathia, Mi... ORPHA:99742
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Alopecia, Toe syndactyly, Posteriorly rotated ears, Short hallux, Supernumerar... ORPHA:3224
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Depressed nasal bridge, Cere... ORPHA:79444
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Prominent nasal bridge, Short toe, Sensorineural hearing impairment, Cone-shaped epiphyses of the... OMIM:619269
Pancreatic Agenesis-Holoprosencephaly Syndrome
Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, Abnormal external no... ORPHA:556955
Heart-Hand Syndrome, Slovenian Type
Brachydactyly ORPHA:168796
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly OMIM:619248
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu... ORPHA:1120
Jansen-De Vries Syndrome
Anteverted nares, Posteriorly rotated ears, Hyperlordosis, Small hand, Short foot, Low-set ears, ... OMIM:617450
19P13.12 Microdeletion Syndrome
Short neck, Synophrys, Short palm, Conductive hearing impairment, Clinodactyly of the 5th finger,... ORPHA:254346
Craniofacioskeletal Syndrome
Posteriorly rotated ears, Choanal atresia, Micrognathia, Microcephaly, Hypoplastic frontal sinuse... OMIM:300712
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Chronic gastritis, Single transverse palmar crease, Micrognathia, Prominen... OMIM:150230
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Short neck, Knee flexion contracture, Agenesis of corpus callosum, Prominent cr... OMIM:619194
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar vermis hypoplasia, Short neck, High, narrow palate, Synophrys, Prominent protruding co... OMIM:300966
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Metatarsus adductus, Microcephaly, Osteop... ORPHA:513456
Chromosome 1P36 Deletion Syndrome, Distal
Synophrys, Depressed nasal ridge, High palate, Clinodactyly of the 5th finger, Conductive hearing... OMIM:607872
Fraser Syndrome 3
Wide nose, Micrognathia, Short toe, Hydrocephalus, Cutaneous syndactyly, Stillbirth, Low-set ears... OMIM:617667
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Split hand, Vertebral segmentation defect, Foot polydactyly, Phocomelia, Duodenal atresia ORPHA:3004
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Wide nose, Camptodactyly of finger, Sensorineural hearing impairment, Recurrent upp... ORPHA:217085
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Sparse scalp hair, Prominent nasal bridge, Single transver... OMIM:223370
Monosomy 22
Low-set, posteriorly rotated ears, Finger syndactyly, Wide nose, Single transverse palmar crease,... ORPHA:96123
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Redundant neck skin, B... OMIM:617157
Marinesco-Sjögren Syndrome
Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Microcephaly, Abnorm... ORPHA:559
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... OMIM:606895
Eiken Syndrome
Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Delayed epip... ORPHA:79106
Floating-Harbor Syndrome
Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Conduc... ORPHA:2044
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Depressed nasal bridge, Postaxial polydactyly, Supernumerary tooth, Postaxial hand polydactyly, A... OMIM:617088
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly OMIM:604381
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short neck, Synophrys, Large fleshy ears, High palate, Prominent superior crus of antihelix, Micr... ORPHA:280633
Isolated Cleft Lip
Supernumerary maxillary incisor, Conductive hearing impairment, Abnormal Eustachian tube morpholo... ORPHA:199302
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Wide nose, Hearing impairment, Underdeveloped nasal alae, Abnormal eyelash mor... ORPHA:1252
Arboleda-Tham Syndrome
Mandibular prognathia, Anteverted ears, Chronic otitis media, Small earlobe, Sparse medial eyebro... OMIM:616268
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... OMIM:602875
Craniosynostosis, Philadelphia Type
Finger syndactyly, Craniosynostosis ORPHA:1527
Corneodermatoosseous Syndrome
Abnormal dental enamel morphology, Abnormality of the hand, Hearing impairment, Carious teeth, Ab... ORPHA:3194
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Macrotia, Mulberry molar, Broad finger, Supernumerary max... OMIM:302350
Rothmund-Thomson Syndrome Type 2
Joint dislocation, Long nose, Patellar hypoplasia, High palate, Sparse hair, Short phalanx of fin... ORPHA:221016
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Postaxial hand polydactyly, Cone-shaped epiphyses of... OMIM:615630
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... OMIM:250420
Brachydactyly Type E
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... ORPHA:93387
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Subglottic stenosis, Micrognathia, Synophrys, Glossoptosis, High palate, Conductive hearing impai... ORPHA:444077
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Genitopatellar Syndrome
Congenital hip dislocation, Prominent nose, Micrognathia, Knee flexion contracture, Anteriorly pl... OMIM:606170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... OMIM:615287
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Otosclerosis, Wide nose, Irregularity of vertebral bodies, Conductiv... ORPHA:580
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Anteverted nares, Overlapping toe, Kyphoscoliosis, Broad nasal tip, Hypopl... OMIM:617402
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Dominant Beta-Thalassemia
Bowing of the long bones, Depressed nasal bridge, Malar prominence, Genu valgum, Hyperplasia of t... ORPHA:231226
Pallister-Hall Syndrome
Depressed nasal ridge, Hemivertebrae, Holoprosencephaly, Bifid uvula, Microretrognathia, Mesoaxia... ORPHA:672
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93260
Coffin-Siris Syndrome 12
Micrognathia, Synophrys, Low anterior hairline, Protruding ear, High palate, Hippocampal atrophy,... OMIM:619325
Opsismodysplasia
Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypop... ORPHA:2746
Charge Syndrome
Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the semicircular can... ORPHA:138
Noonan Syndrome
Thickened nuchal skin fold, Abnormal hair quantity, Low-set, posteriorly rotated ears, Thickened ... ORPHA:648
Microphthalmia, Syndromic 6
Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, High palate, Cli... OMIM:607932
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Short toe, Sensorineural hearing impairment, Brachydactyly ORPHA:3085
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali... ORPHA:2031
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Delayed closure of the anterior fontanelle, Microgn... ORPHA:96182
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... OMIM:607323
Cranioectodermal Dysplasia 2
Micrognathia, Short neck, High palate, Sparse hair, Simple ear, Syndactyly, Depressed nasal bridg... OMIM:613610
Adult Syndrome
Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Prominent nasal bridge, Sparse scalp ... ORPHA:978
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Prominent nasal bridge, Highly arched eyebrow, Short toe, Widow's peak, Wide n... ORPHA:1519
Curry-Jones Syndrome
Intestinal pseudo-obstruction, Agenesis of corpus callosum, Unicoronal synostosis, Lipomyelomenin... OMIM:601707
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Esophageal stenosis, Cerebral calcification, Hearing impai... ORPHA:1775
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose ORPHA:2835
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Thoracic hemivertebrae, Anal... ORPHA:1436
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Depressed nasal bridge, Cere... ORPHA:79443
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Osteoarthritis, Brachydactyly ORPHA:435804
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Prominent nose, Short neck,... OMIM:612474
Multiple Synostoses Syndrome 2
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta... OMIM:610017
Meier-Gorlin Syndrome 7
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate... OMIM:617063
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Meningocele,... ORPHA:3265
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal widening, Wide nasal bridge, Sho... OMIM:614376
Adult Syndrome
Sparse scalp hair, Toe syndactyly, Absent nipple, Fair hair, Sparse axillary hair, Split hand, Sp... OMIM:103285
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral seg... ORPHA:373
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Micrognathia, Synophrys, Aplasia of the distal phalanx of the 5th finger, High palate, Clinodacty... OMIM:608670
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Broad nasal... OMIM:603671
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Distal Deletion 9P
Low-set, posteriorly rotated ears, Short neck, High, narrow palate, Aplasia/Hypoplasia of the ear... ORPHA:1642
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Anteverted nares, Short nail, Short neck, Kyphosis, Partial ... ORPHA:420794
Treacher Collins Syndrome 3
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... OMIM:248390
Acromelic Frontonasal Dysplasia
Encephalocele, Broad nasal tip, Bifid nasal tip, Meningocele, Patellar hypoplasia, Hypoplasia of ... ORPHA:1827
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Choanal stenosis, Atrichia, Death in childhood, Neonatal death, Dystrophic fingernails, Absent ey... OMIM:308205
Pitt-Hopkins Syndrome
Single transverse palmar crease, Short neck, Short metatarsal, Finger clinodactyly, Thickened hel... ORPHA:2896
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand OMIM:146160
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Hand muscle weakness, Sensorineural hearing impairment, Split hand, Hammerto... ORPHA:90658
Fanconi Anemia
Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t... ORPHA:84
Thoracoabdominal Syndrome
Hydrocephalus, Cystic hygroma, Anencephaly, Cleft palate OMIM:313850
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Hearing impairment, Recurrent upper r... ORPHA:508542
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Microcephaly, Short Stature, And Limb Abnormalities
Short metacarpal, Brachydactyly, Microcephaly, Hypoplasia of the radius, Patellar aplasia, Simpli... OMIM:617604
Oligomeganephronia
Branchial cyst, Hearing impairment, Micrognathia ORPHA:2260
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
Spastic Paraplegia 20, Autosomal Recessive
Ulnar deviation of the hand, Kyphoscoliosis, Short foot, Ankle clonus, Hammertoe, Camptodactyly, ... OMIM:275900
Isolated Exencephaly
Depressed nasal bridge, Abnormal facial skeleton morphology, Holoprosencephaly, Low-set ears, Apl... ORPHA:563612
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, High palate, Clinodactyly of ... OMIM:616975
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Agenesis of corpus callosum, Hypoplas... OMIM:613091
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the hand, Osteoarthritis, Dystrophic fingernails, Abnormal diap... ORPHA:1657
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Short distal phalanx of the thumb, Aganglionic megacolon, Brachydactyly ORPHA:2150
Fraser Syndrome 1
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Laryngeal stenosis, Cleft ala nasi, Cutaneo... OMIM:219000
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Scoliosis, Microcephaly OMIM:615284
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow greater scia... OMIM:250220
Lowry-Wood Syndrome
Prominent nose, Microcephaly, Squared iliac bones, Limited elbow extension, Hip dislocation, Elbo... OMIM:226960
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Fraser Syndrome
Subglottic stenosis, Laryngeal stenosis, Cleft ala nasi, Vertebral segmentation defect, High pala... ORPHA:2052
Lowry-Wood Syndrome
Epiphyseal dysplasia, Abnormality of nail color, Microcephaly, Elbow dislocation, Coxa vara, Apla... ORPHA:1824
Satoyoshi Syndrome
Short metacarpal, Alopecia, Malabsorption, Short metatarsal, Osteolytic defects of the phalanges ... OMIM:600705
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Allergic rhinitis, Ulnar deviation of the wrist, Hydrocephalus, 2-3 toe syndactyly, K... OMIM:618162
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Depressed nasal bridge, Posteriorly rotated ears, Tapered finger, Broad nasal tip, M... OMIM:619680
Beta-Thalassemia Major
Bowing of the long bones, Depressed nasal bridge, Malar prominence, Genu valgum, Hyperplasia of t... ORPHA:231214
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Ovoid vertebral bodies, Short hallux, ... ORPHA:1517
Doors Syndrome
Abnormal finger morphology, Hemivertebrae, Low anterior hairline, High palate, Triphalangeal thum... ORPHA:79500
Progressive Osseous Heteroplasia
Osteoarthritis, Brachydactyly ORPHA:2762
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Coxa valga, Microcephaly, Hypoplastic vertebral bodies, Holoprosencephaly, Clin... ORPHA:2163
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Pachygyria, Agenesis of corpus callosum, Long ... ORPHA:2308
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Lathosterolosis
Toe syndactyly, Anteverted nares, Micrognathia, Microcephaly, Myelomeningocele, Postaxial hand po... OMIM:607330
Filippi Syndrome
Enlarged epiphyses, Wide nose, Finger syndactyly, Prominent nasal bridge, Supernumerary nipple, U... ORPHA:3255
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplas... OMIM:617895
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Primrose Syndrome
Cerebral calcification, Hypoplasia of the maxilla, Synophrys, Knee flexion contracture, Irregular... OMIM:259050
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... ORPHA:85167
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla, S... ORPHA:3044
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Sparse scalp hair, Aganglionic megacolon, Microcephaly, Sparse eyebrow, Macrot... ORPHA:66629
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Absent nipple, Cubitus valgus, Hy... OMIM:104350
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Alopecia, Abnormal dental enamel morphology, Campto... ORPHA:464
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, White forelock, Clinodactyly of the 5th fin... ORPHA:2475
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Absent septum pellucidum, Ileal atresia, ... OMIM:618820
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Midline defect of the nose, Bifid nose, Absent inner eyelashes, Craniu... OMIM:229400
Non-Distal Deletion 10Q
Brachydactyly, Synophrys, Wide nasal bridge, Clinodactyly of the 5th finger, Overlapping fingers,... ORPHA:1581
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Sparse scalp hair, Anal stenosis, Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia, 2... OMIM:620029
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Depressed nasal bridge, Microtia, Camptodactyly, Intestinal lymphangiectasia, Hearing... OMIM:616006
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Protruding ear, Cerebellar he... ORPHA:500150
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Peters Plus Syndrome
Micromelia, Micrognathia, Short neck, Clinodactyly of the 5th finger, Conductive hearing impairme... ORPHA:709
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Conductive hearing impairment, Spina bifid... OMIM:150250
Waardenburg Syndrome, Type 1
Mandibular prognathia, White eyelashes, White eyebrow, Spina bifida, Underdeveloped nasal alae, C... OMIM:193500
Periventricular Nodular Heterotopia 1
Syndactyly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short finger, Clinodactyly,... OMIM:300049
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Low-set ears, Clinodactyly ... OMIM:601163
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Posteriorly rotated ears, Hearing impairment, Underdeveloped n... ORPHA:264200
Nail-Patella Syndrome
Biceps aplasia, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Triceps aplasia, Se... OMIM:161200
Rin2 Syndrome
Sparse scalp hair, High palate, Scoliosis, Umbilical hernia, Hirsutism, Brachydactyly ORPHA:217335
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Anteverted nares, Microcephaly, Short proximal phalanx ... ORPHA:261323
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... ORPHA:79445
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Depressed nasal bridge, Camptodactyly of finger, Cr... ORPHA:2136
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Anteverted nares, Slow-growing hair, Hypoplasia of the maxilla... ORPHA:238468
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Sparse hair, C... OMIM:181270
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Abnormal pelvis bone ... ORPHA:166119
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Short neck, Synophrys, Cleft palate, Protruding ear, Facial hirsu... ORPHA:247768
Frontal Encephalocele
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... ORPHA:1931
Teebi-Shaltout Syndrome
Single transverse palmar crease, High, narrow palate, Low anterior hairline, Sparse hair, Small e... OMIM:272950
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li... ORPHA:93311
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Postaxial polydactyly, Brachydactyly OMIM:615633
Mosaic Trisomy 16
Syndactyly, Abnormal ear morphology, Single transverse palmar crease, Abnormality of the nose, La... ORPHA:1708
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Sparse scalp hair, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Hip disloca... ORPHA:2003
Oculocerebrocutaneous Syndrome
Finger syndactyly, Alopecia, Congenital hip dislocation, Hearing impairment, Aplasia/Hypoplasia o... ORPHA:1647
Prader-Willi Syndrome
Narrow nasal bridge, Syndactyly, Hypopigmentation of hair, Carious teeth, Kyphosis, Acromicria, S... OMIM:176270
Neurocardiofaciodigital Syndrome
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Sparse eyebrow, Polydactyly, High palate,... OMIM:619869
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Conductive hearing impairment, Abnormal salivary gland morphology, Abno... ORPHA:2363
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Hypoplasia of delto... OMIM:173800
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Dihydropyrimidinase Deficiency
Abnormal cerebral white matter morphology, Short phalanx of finger, Talipes equinovarus, Anal atr... OMIM:222748
Usher Syndrome, Type Ig
Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone OMIM:606943
Alg8-Cdg
Leukoencephalopathy, Macroglossia, Talipes equinovarus, Hypoplasia of the corpus callosum, Campto... ORPHA:79325
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
22Q11.2 Deletion Syndrome
Micrognathia, Short neck, Conductive hearing impairment, Chronic otitis media, Small earlobe, Ara... ORPHA:567
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hearing impairment, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Abnormal fe... ORPHA:3218
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux, Highly arched eyebrow, Mi... OMIM:600987
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Micrognathia, Short neck, High palate, Depressed nasal bridge, Anteverted nares, Tapered finger, ... OMIM:309580
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious teeth, Hip di... OMIM:182250
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Lo... OMIM:608624
Yunis-Varon Syndrome
Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Anterior concav... OMIM:216340
Kbg Syndrome
Single transverse palmar crease, Short neck, Synophrys, Low anterior hairline, Protruding ear, Th... OMIM:148050
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Short metacarpal, Abnormal dental enamel morphology, Alopecia totalis,... ORPHA:221008
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Myoclonic-Astatic Epilepsy
Syndactyly, Anteverted nares, Frontal balding, Microcephaly, Wide nasal bridge, Thick nasal alae ORPHA:1942
Intellectual Developmental Disorder, Autosomal Dominant 57
Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Broad nasal tip, Microcephaly... OMIM:618050
Chitayat Syndrome
Hallux valgus, Depressed nasal bridge, Anteverted nares, Short columella, Brachydactyly OMIM:617180
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Hydrocephalus, Hand polydactyly, Foot ... ORPHA:60040
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia, Eosinophili... OMIM:610168
Methylcobalamin Deficiency Type Cble
Syndactyly, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Hypoplasia of... ORPHA:2169
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Clubbing o... ORPHA:1318
Noonan Syndrome 1
Kyphoscoliosis, Micrognathia, Short neck, High, narrow palate, Woolly hair, Hearing impairment, D... OMIM:163950
Opsismodysplasia
Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Short neck, Metaphyseal c... OMIM:258480
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli, Camptodactyl... ORPHA:284984
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Cleft palate... ORPHA:2890
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Split hand, Clubbing, Cleft palate, Low-set ears, Death in childhood, Hypoplastic helices, Macrotia OMIM:600460
Hirschsprung Disease With Type D Brachydactyly
Short thumb, Aganglionic megacolon, Type D brachydactyly OMIM:306980
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Synophrys, Cortical dysplasia, Tracheoesophageal fistula, Clef... ORPHA:261272
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Tympanosclerosis, Enamel hypoplasia, Diarrhea OMIM:240300
Gracile Bone Dysplasia
Death in infancy, Hydrocephalus, Flared metaphysis, Slender long bone, Ankyloglossia, Brachydactyly OMIM:602361
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Degcags Syndrome
Prominent nose, Micrognathia, Synophrys, Low anterior hairline, Premature graying of hair, High p... OMIM:619488
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Meningocele, Camptodactyly of finger, Duodenal stenosis ORPHA:1759
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Depressed nasal bridge, Absent nipple, Sparse eyelashes, Underdevel... OMIM:305100
Chops Syndrome
Curly hair, Anteverted nares, Thick hair, Hearing impairment, Microcephaly, High, narrow palate, ... OMIM:616368
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Microcephaly, High, narrow palate, Abnormal 5th finger morpholo... ORPHA:1439
Weill-Marchesani Syndrome
Short thumb, Brachydactyly ORPHA:3449
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... OMIM:140000
Frontometaphyseal Dysplasia 2
Subglottic stenosis, Congenital hip dislocation, Short metatarsal, Low anterior hairline, Finger ... OMIM:617137
Bloom Syndrome
Syndactyly, Prominent nose, Microcephaly, Recurrent upper respiratory tract infections, Agenesis ... OMIM:210900
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Geleophysic Dysplasia 3
Subglottic stenosis, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Limited elbo... OMIM:617809
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Cerebral white matter atrophy, Short neck, Abnormal globus pallidus morphology, Metaphyseal widen... ORPHA:99646
Pallister-Killian Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Anteriorly... OMIM:601803
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Trismus, Xerostomia, Palmoplantar hyperkeratosis, Dys... ORPHA:2907
Mgat2-Cdg
Low-set, posteriorly rotated ears, Posteriorly rotated ears, Kyphosis, Low hanging columella, Abn... ORPHA:79329
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Cerebellar vermis hypoplasia, Vertebral segmentation defect, Narrow greate... OMIM:312870
Down Syndrome
Thickened nuchal skin fold, Redundant neck skin, Sandal gap, Single transverse palmar crease, Aga... OMIM:190685
Occipital Horn Syndrome
Cerebral calcification, High, narrow palate, Coxa vara, Humerus varus, Coarse hair, Short palm, L... ORPHA:198
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Lymphedema-Hypoparathyroidism Syndrome
Hypertrichosis, Wide nasal bridge, Increased carrying angle, Brachydactyly OMIM:247410
Adams-Oliver Syndrome 6
Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly OMIM:616589
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Cerebellar vermis hypoplasia, Micromelia, Microcephaly, Trapezoidal vertebral b... OMIM:600092
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy... ORPHA:1553
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Short metacarpal, Toe syndactyly, Microtia, third degree, Abnormal nasal morpholo... OMIM:200110
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe, Protruding ear OMIM:181510
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, High palate, Otitis media, Conductive hearing impairment, Syndactyly, Broad hallux,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, High palate, Otitis media, Conductive hearing impairment, Syndactyly, Broad hallux,... ORPHA:353277
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Anteverted nares, Hypoplasia of the pons, Sensorineural heari... OMIM:616430
Marfan Syndrome
Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Micrognathia, ... ORPHA:558
Laurin-Sandrow Syndrome
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... OMIM:135750
Weill-Marchesani Syndrome 3
Brachydactyly OMIM:614819
Dahlberg-Borer-Newcomer Syndrome
Brachydactyly, Wide nasal bridge, Generalized hirsutism, Short distal phalanx of finger ORPHA:1563
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Anteverted nares, Aganglionic megacolon, Microcephaly, Sensorineural hearing im... ORPHA:847
Cinca Syndrome
Joint dislocation, Brachydactyly, Delayed closure of the anterior fontanelle, Abnormal joint morp... ORPHA:1451
Rhyns Syndrome
Radial bowing, Sensorineural hearing impairment, Short long bone, Short femoral neck, Conductive ... OMIM:602152
Wildervanck Syndrome
Short neck, Congenital sensorineural hearing impairment, Meningocele, Low posterior hairline, Fus... ORPHA:3456
Meester-Loeys Syndrome
Joint dislocation, Arachnodactyly, Hypertrichosis, High palate, Broad distal phalanx of finger, C... OMIM:300989
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Prominent nasal tip, Cerebellar vermis hypoplasia, Sandal gap, Optic nerve... OMIM:620330
Polysyndactyly With Cardiac Malformation
Syndactyly, Anteverted nares, Preaxial hand polydactyly, Duplication of phalanx of hallux, Stillb... OMIM:263630
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Depressed nasal bridge, High palate, Umbilical hernia, Polymicrogyria OMIM:614520
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Depressed nasal bridge, Posteriorly rotated ears, W... OMIM:619479
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Abnormal c... ORPHA:1435
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ... OMIM:615503
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Scoliosis, Brachydactyly OMIM:613819
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Optic nerve hypoplasia, Micrognathia, Bulbous nose, 2-3 toe syndactyly, Corona... OMIM:620025
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Wide nose, Craniosynostosis, Broad nasal tip, Sparse eyebrow, Supernumerary nipple, A... ORPHA:1521
Pgm3-Cdg
Lactose intolerance, Mild neurosensory hearing impairment, Allergic rhinitis, Sensorineural heari... ORPHA:443811
Proteasome-Associated Autoinflammatory Syndrome 2
Clinodactyly, Brachydactyly OMIM:618048
Otosclerosis 10
Otosclerosis OMIM:615589
Joubert Syndrome 33
Syndactyly OMIM:617767
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly, Glue ear, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin ey... ORPHA:1433
Limb-Mammary Syndrome
Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Submucous cleft soft palate, Cleft hard pala... ORPHA:69085
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Sensorineural hearing i... OMIM:605432
Grange Syndrome
Syndactyly, Short palm ORPHA:79094
Bardet-Biedl Syndrome 1
Syndactyly, Aganglionic megacolon, Postaxial polydactyly, Hearing impairment, High, narrow palate... OMIM:209900
Popliteal Pterygium Syndrome
Fibrous syngnathia, Cleft palate, Popliteal pterygium, Cutaneous finger syndactyly, Talipes equin... OMIM:119500
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Protruding ear, Prominent finge... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Protruding ear, Prominent finge... ORPHA:363958
Caudal Duplication
Spina bifida, Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Intestinal duplication ORPHA:1756
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon, Anteverted nares, Absent septum pellucidum, Hearing impairment, Abnormalit... ORPHA:3339
Adams-Oliver Syndrome 5
Syndactyly, Esophageal varix, Umbilical hernia, Dystrophic toenail, Brachydactyly OMIM:616028
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Wide anterior fontanel, Large place... ORPHA:116
Cardiospondylocarpofacial Syndrome
Anteverted nares, Tarsal synostosis, Posteriorly rotated ears, Conductive hearing impairment, Bul... OMIM:157800
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Cerebral cortical atrophy, Congenital bilateral hip dislocation ORPHA:404451
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Finger syndactyly, Low-set, posteriorly rotated ears, Prominent na... ORPHA:110
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Intracerebral periventricular calcifications, Short neck, Microcepha... ORPHA:168577
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Cerebellar vermis hypoplasia, Uplifted earlobe, Cleft hard palate, Calcane... ORPHA:261537
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Posteriorly rotated ears, Spina bifida, Tapered finger, Broad nasal tip, Partial age... OMIM:619480
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Death in infancy, Early ossification of capital femoral epiphyses, Cone-s... OMIM:208500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydact... OMIM:263520
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Brachydactyly OMIM:603233
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Anteverted nares, Narrow nasal tip, Supernumerary nipple, Tapered finger, Spar... ORPHA:477993
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Proboscis Lateralis
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the maxilla, Abnormal location of the eyebrow,... ORPHA:141099
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Mixed hearing impairment, Thickened helices, Abnormality of the middle... ORPHA:581
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Depressed nasal bridge, Single transverse palmar crease, Posteriorly rotated ears, Broad nasal ti... ORPHA:466943
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Infantile Systemic Hyalinosis
Camptodactyly of finger, Micromelia, Short neck, Malabsorption, Steatorrhea, Short palm, Brachyda... ORPHA:2176
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Proximal placement of thumb, Microcephaly, Sensorineural hearing impairment, P... ORPHA:139471
You-Hoover-Fong Syndrome
Kyphoscoliosis, Microcephaly, Hearing impairment, Cleft palate, Clinodactyly, Brachydactyly OMIM:616954
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndacty... OMIM:107480
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Loeys-Dietz Syndrome 3
Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis... OMIM:613795
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Conical incisor, Radial deviation of t... OMIM:149730
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the upper limb, Scoliosis, Short ... ORPHA:1556
Blepharocheilodontic Syndrome 2
Distichiasis, Cutaneous syndactyly OMIM:617681
X Small Rings
Toe syndactyly, Anteverted nares, Tapered finger, Short neck, 2-3 toe syndactyly, Upper limb unde... ORPHA:96201
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Microcephaly, Abnormal shoulder morphology, Abnor... ORPHA:1422
1P36 Deletion Syndrome
Depressed nasal ridge, Abnormality of the neck, Clinodactyly of the 5th finger, Conductive hearin... ORPHA:1606
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Cerebellar vermis hypoplasia, Uplifted earlobe, Cleft hard palate, Calcane... ORPHA:261552
Fryns Microphthalmia Syndrome
Neural tube defect, Macrotia, Abnormality of the ear, Bilateral cleft lip and palate OMIM:600776
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Rocker bottom foot, Micrognathia, Abnormal hair morphology, Abn... ORPHA:79474
Mowat-Wilson Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Uplifted earlobe, Cleft hard palate, Calcane... ORPHA:2152
Kindler Epidermolysis Bullosa
Finger syndactyly, Laryngeal stenosis, Abnormal dental enamel morphology, Camptodactyly of finger... ORPHA:2908
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Stapes ankylosis, Calcification of the auricular cartilage, Cerebral cal... ORPHA:51608
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Proteus Syndrome
Abnormal finger morphology, Abnormal form of the vertebral bodies, Abnormality of the neck, Clino... ORPHA:744
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Vater/Vacterl Association
Occipital encephalocele, Abnormal nasopharynx morphology, Syndactyly, Laryngeal stenosis, Choanal... OMIM:192350
Adams-Oliver Syndrome 1
Encephalocele, Alopecia, Toe syndactyly, Supernumerary nipple, Microcephaly, Cortical dysplasia, ... OMIM:100300
Williams Syndrome
Micrognathia, Rectal prolapse, Abnormal form of the vertebral bodies, Protruding ear, Abnormality... ORPHA:904
Loeys-Dietz Syndrome 6
Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral d... OMIM:619656
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla OMIM:313500
Mckusick-Kaufman Syndrome
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa... ORPHA:2473
Neurocutaneous Melanocytosis
Death in infancy, Meningocele, Aplasia/Hypoplasia of the cerebellum, Generalized hirsutism, Dandy... ORPHA:2481
Orthostatic Hypotension 1
Nasal congestion, High palate, Brachydactyly OMIM:223360
Cloacal Exstrophy
Intestinal malrotation, Spina bifida, Myelomeningocele, Abnormal tibia morphology, Hip dislocatio... ORPHA:93929
Timothy Syndrome
Depressed nasal bridge, Cutaneous syndactyly OMIM:601005
Microphthalmia, Syndromic 1
Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, High palate, Prominent fin... OMIM:309800
Constricting Bands, Congenital
Encephalocele, Syndactyly, Cleft palate, Hand polydactyly, Talipes equinovarus, Scoliosis OMIM:217100
Digeorge Syndrome
Micrognathia, Microcephaly, High, narrow palate, Cleft palate, High palate, Patellar dislocation,... OMIM:188400
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Short palm, Duodenal ulcer, Malabsorption, Sensorineural hearing impairment, Steatorrhea, Brachyd... ORPHA:3217
Sirenomelia
Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia ORPHA:3169
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Unilateral deafness, Meningo... ORPHA:1010
Phakomatosis Pigmentokeratotica
Hemiatrophy, Patchy alopecia, Scoliosis, Spina bifida ORPHA:2874
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Anteverted nares, Kyphosis, Midline defect of the nose, Scoliosis, Short hard ... ORPHA:1969
Sacral Defect With Anterior Meningocele
Myeloschisis, Hemisacrum, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bilat... OMIM:600145
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Anal stenosis, Wide nasal bridge, Anal atresia OMIM:180500
Fraser Syndrome 2
Wide nose, Intestinal malrotation, Short neck, Underdeveloped nasal alae, Rectal atresia, Low ant... OMIM:617666
Alobar Holoprosencephaly
Proboscis, Microcephaly, Hydrocephalus, Sensorineural hearing impairment, Depressed nasal ridge, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Proboscis, Microcephaly, Hydrocephalus, Sensorineural hearing impairment, Depressed nasal ridge, ... ORPHA:93926
Lobar Holoprosencephaly
Proboscis, Microcephaly, Hydrocephalus, Sensorineural hearing impairment, Depressed nasal ridge, ... ORPHA:93924
Semilobar Holoprosencephaly
Proboscis, Microcephaly, Hydrocephalus, Sensorineural hearing impairment, Depressed nasal ridge, ... ORPHA:220386
Long Qt Syndrome 8
Syndactyly OMIM:618447
Cowden Syndrome
Hearing impairment, Kyphosis, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplanta... ORPHA:201
Split Cord Malformation
Kyphoscoliosis, Hyperlordosis, Tufted hairs, Cervical spina bifida, Myelomeningocele, Lipomyelome... ORPHA:573278
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Scoliosis OMIM:162200
Weill-Marchesani Syndrome 4
Brachydactyly OMIM:613195
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Arima Syndrome
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Postaxial hand polydactyly, Esophage... OMIM:243910
Grange Syndrome
Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Limitation of neck moti... ORPHA:268810
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Depressed nasal bridge, Anteverted nares, Celiac disease, Sensorineural hearing impairment, Recur... ORPHA:293987
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Gastric ulcer, Short phalanx of finger, Dysplasia of second lumbar vertebra OMIM:208060
Knobloch Syndrome 1
Occipital encephalocele, Depressed nasal bridge, Absent septum pellucidum, Microcephaly, Pyloric ... OMIM:267750
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Aqueductal stenosis,... OMIM:619534
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Alkaptonuria
Arthropathy, Vertebral fusion, Kyphosis, Arthritis, Limitation of knee mobility, Intervertebral d... OMIM:203500
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Postax... OMIM:236700
Lumbar Syndrome
Anal atresia, Myelomeningocele, Ectopic anus, Spina bifida ORPHA:83628
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Microcephaly, Meningocele ORPHA:991
Exstrophy-Epispadias Complex
Anal stenosis, Spina bifida, Microcephaly, Hydrocephalus, Abnormal joint morphology, Anal atresia ORPHA:322

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 Dlx6

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 Dlx6.

No publications found that use IMPC mice or data for Dlx6.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dlx6tm413900(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter