Gene Summary

Name:
grainyhead like transcription factor 2
Synonyms:
BOM,  clft3,  0610015A08Rik,  grainyheadlike,  Tcfcp2l3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
exencephaly Grhl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal neural tube morphology Grhl2em1(IMPC)Mbp HOM E9.5 0.00
abnormal optic vesicle formation Grhl2em1(IMPC)Mbp HOM E9.5 0.00
abnormal limb morphology Grhl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal midbrain development Grhl2em1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Grhl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal hindbrain development Grhl2em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Grhl2em1(IMPC)Mbp HOM E9.5 0.00
abnormal forebrain development Grhl2em1(IMPC)Mbp HOM E9.5 0.00
abnormal blood vessel morphology Grhl2em1(IMPC)Mbp HET E15.5 0.00
abnormal abdominal wall morphology Grhl2em1(IMPC)Mbp HOM E15.5 0.00
increased freezing behavior Grhl2em1(IMPC)Mbp HET Early adult 6.15×10-05
abnormal heart morphology Grhl2em1(IMPC)Mbp HOM E9.5 0.00
abnormal craniofacial morphology Grhl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Grhl2em1(IMPC)Mbp HET E15.5 0.00
abnormal head shape Grhl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal pericardium morphology Grhl2em1(IMPC)Mbp HOM E9.5 0.00
syndactyly Grhl2em1(IMPC)Mbp HOM E15.5 0.00
increased startle reflex Grhl2em1(IMPC)Mbp HET Early adult 3.77×10-06
preweaning lethality, complete penetrance Grhl2em1(IMPC)Mbp HOM   Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

116 Images

Gross Morphology Embryo E9.5

Images

31 Images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

Gross Morphology Embryo E14.5-E15.5

Images

9 Images

MicroCT E9.5

Embryo reconstruction

8 Images

Human diseases caused by Grhl2 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 Grhl2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectodermal Dysplasia/Short Stature Syndrome
Dysphagia OMIM:616029
Deafness, Autosomal Dominant 28
OMIM:608641
Corneal Dystrophy, Posterior Polymorphous, 4
OMIM:618031
Posterior Polymorphous Corneal Dystrophy
ORPHA:98973

The table below shows human diseases predicted to be associated to Grhl2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft palate, Neural tube defect, Bilateral cleft lip OMIM:600776
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Anterior encephalocele, Bilateral cleft palate, Coloboma, Omphalocele, Holoprosenc... OMIM:601357
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Parietal Foramina 3
Encephalocele OMIM:609566
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft of the upper lip, Cleft palate, Anencephaly, Spina bifida ORPHA:2476
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Anophthalmia Plus Syndrome
Tessier cleft, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bifida, Cleft pa... ORPHA:1104
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Coloboma Of Macula With Type B Brachydactyly
Coloboma, Absent distal phalanges, Broad distal phalanx of the thumb, Bifid distal phalanx of the... OMIM:120400
Isolated Dandy-Walker Malformation
Cleft palate, Encephalocele ORPHA:217
Acalvaria
Hydrocephalus, Cleft palate, Holoprosencephaly, Spina bifida ORPHA:945
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Craniorachischisis
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Omphalocele, Spinal dysraphism, Cervic... ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Postaxial hand polydactyly, Syndactyly OMIM:615938
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Deep palmar crease, Coloboma OMIM:600251
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Cleft palate, Upper limb phocomelia, Synda... ORPHA:294975
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Parietal Foramina 1
Cleft palate, Encephalocele OMIM:168500
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele OMIM:213010
Schisis Association
Anencephaly, Encephalocele, Spina bifida, Cleft palate, Unilateral cleft lip ORPHA:63862
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology ORPHA:85203
Unilateral Ocular Duplication
Midline facial cleft, Cleft palate, Encephalocele ORPHA:3374
Cocaine Embryofetopathy
Encephalocele ORPHA:1911
Greig Cephalopolysyndactyly Syndrome
Trigonocephaly, Broad thumb, Abnormal heart morphology, Syndactyly, Umbilical hernia, Craniosynos... OMIM:175700
Parietal Foramina 2
Encephalocele OMIM:609597
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft, Hydrocephalus, Finger syndactyly, Abnormal rib morphology, Congen... ORPHA:1647
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... OMIM:102510
Acrofacial Dysostosis, Catania Type
Tessier cleft, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Inguin... ORPHA:1786
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Constricting Bands, Congenital
Tessier cleft, Encephalocele, Omphalocele, Hand polydactyly, Cleft palate, Abnormal rib cage morp... OMIM:217100
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Orofacial cleft, Occipital encephalocele ORPHA:324416
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Pectus exc... ORPHA:957
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Supernumerary Nostril
Tessier cleft ORPHA:141096
Meckel Syndrome, Type 11
Occipital encephalocele OMIM:615397
2Q24 Microdeletion Syndrome
Coloboma, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenching, Cl... ORPHA:1617
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Cleft palate, Tessier cleft OMIM:607597
Joubert Syndrome 15
Coloboma, Exencephaly, Preaxial polydactyly OMIM:614464
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Syndactyly, Brachydactyly, Clinodactyly, Iris coloboma OMIM:610023
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormal rib morphology, Rad... ORPHA:3268
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Frontal bossing, Toe s... ORPHA:380
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Frontofacionasal Dysplasia
Tessier cleft, Encephalocele, Non-midline cleft of the upper lip, Short stature, Cleft palate ORPHA:1791
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the humerus, Camptodactyly of finger, Cleft palate, Brachydactyly, ... ORPHA:1794
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli... OMIM:183600
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Clinodactyly of the 5th finger, Postaxial hand polydactyly, Overlapping fingers, S... ORPHA:952
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele OMIM:200130
Hartsfield Syndrome
Lobar holoprosencephaly, Non-midline cleft of the upper lip, Cleft palate, Encephalocele ORPHA:2117
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, 2-3 toe syndactyly, Cleft palate, Short 5th finger, Small thenar eminence OMIM:239800
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Caudal Duplication
Spinal cord lesion, Myelomeningocele, Spina bifida ORPHA:1756
Abruzzo-Erickson Syndrome
Coloboma, Cleft palate, Short toe, Chorioretinal coloboma, Brachydactyly, Radioulnar synostosis, ... ORPHA:921
Microphthalmia, Isolated 4
Postaxial polydactyly, Coloboma OMIM:613094
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Congenital Herpes Simplex Virus Infection
Intrauterine growth retardation, Hydranencephaly ORPHA:293
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida OMIM:207950
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Cr... OMIM:614416
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Frontonasal Dysplasia 1
Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Coloboma, Postaxial hand polydact... OMIM:136760
Abruzzo-Erickson Syndrome
Coloboma, Cleft palate, Radioulnar synostosis OMIM:302905
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus excavatum, Camptodactyly of finger, Cle... ORPHA:376
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate OMIM:613456
Ritscher-Schinzel Syndrome 1
Brachycephaly, Prominent occiput, Hydrocephalus, Coloboma, Aortic valve stenosis, Pulmonic stenos... OMIM:220210
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft palate, Encephalocele OMIM:613885
Gómez-López-Hernández Syndrome
Hydrocephalus, Turricephaly, Brachycephaly, Short stature ORPHA:1532
Biemond Syndrome Type 2
Hydrocephalus, Coloboma, Preaxial polydactyly ORPHA:141333
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Isolated Klippel-Feil Syndrome
Cleft palate, Spina bifida ORPHA:2345
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Humero-Radial Synostosis
Tarsal synostosis, Abnormality of the wrist, Meningocele, Aplasia/Hypoplasia of the thumb, Elbow ... ORPHA:3265
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Mosaic Trisomy 9
Abnormal lung lobation, Tessier cleft, Dextrocardia, Abnormal heart valve morphology, Spina bifid... ORPHA:99776
Joubert Syndrome 16
Polydactyly, Coloboma, Encephalocele OMIM:614465
Anencephaly 2
Cleft maxillary alveolar ridge, Anencephaly, Median cleft palate OMIM:619452
Craniofacial Microsomia 2
Submucous cleft palate, Dermal sinus tract OMIM:620444
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft palate, Anencephaly OMIM:611561
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Short... ORPHA:1908
Congenital Muscular Dystrophy, Fukuyama Type
Brachycephaly, Plagiocephaly, Hydrocephalus, Camptodactyly of finger, Dolichocephaly, Intrauterin... ORPHA:272
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Aplasia/Hypoplasia o... ORPHA:2839
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Meckel Syndrome 13
Occipital encephalocele OMIM:617562
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Meckel Syndrome, Type 2
Cleft palate, Anencephaly, Encephalocele, Meningocele OMIM:603194
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Inguinal hernia, Short stature, Frontal bossing, Arachnodactyly, Rudimentary posta... OMIM:600325
Carpenter Syndrome
Polydactyly, Turricephaly, Genu valgum, Finger syndactyly, Cloverleaf skull, Postaxial hand polyd... ORPHA:65759
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Enlarged Parietal Foramina
Occipital encephalocele, Cleft palate, Myelomeningocele ORPHA:60015
Diprosopus
Non-midline cleft of the upper lip, Cleft palate, Anencephaly ORPHA:1681
Pfeiffer Syndrome Type 1
Brachycephaly, Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Bicoronal synostosis, Short ... ORPHA:93258
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Oculocerebrocutaneous Syndrome
Cleft palate, Orbital encephalocele OMIM:164180
Craniotelencephalic Dysplasia
Frontal encephalocele OMIM:218670
Oculoauriculofrontonasal Syndrome
Cleft palate, Encephalocele ORPHA:398156
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Cleft palate OMIM:611134
Pentasomy X
Delayed puberty, Plagiocephaly, Clinodactyly of the 5th finger, Small hand, Short stature, Campto... ORPHA:11
Leber Congenital Amaurosis
Encephalocele ORPHA:65
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Hydrocephalus, Foot polydactyly, Short palm, Chorioretinal colobo... ORPHA:268249
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Craniodigital-Intellectual Disability Syndrome
Short stature, Finger syndactyly, Brachycephaly, Spina bifida occulta ORPHA:1514
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... OMIM:300244
Neuralgic Amyotrophy
Scapular winging, Sprengel anomaly, Cleft palate, Upper limb amyotrophy, Syndactyly ORPHA:2901
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Cleft palate OMIM:607361
Cerebrooculonasal Syndrome
Tessier cleft, Postaxial hand polydactyly ORPHA:66625
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Spina bifida ORPHA:1327
Ring Chromosome 21 Syndrome
Narrow palm, Short stature, Abnormal heart morphology, Holoprosencephaly, Syndactyly, Clinodactyl... ORPHA:1445
Microphthalmia/Coloboma 4
Coloboma OMIM:251505
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Bilateral single transverse palmar creases, Broad thumb, Camptodactyly of finger, ... ORPHA:1236
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Genu valgum, Delayed epiphyseal ossification, Pectus excavatum, Cutaneous ... ORPHA:166024
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac... DECIPHER:46
Mesomelic Dysplasia, Nievergelt Type
Brachycephaly, Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal syn... ORPHA:2633
Joubert Syndrome 18
Occipital encephalocele, Cleft palate OMIM:614815
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Resting tremor, Tremor, Ab... ORPHA:3077
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Pai Syndrome
Cleft palate, Encephalocele ORPHA:1993
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Carpenter Syndrome 1
Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilica... OMIM:201000
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis, Brachycephaly OMIM:612247
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Hydrocephalus, Ulnar deviation of the wrist, Unilambdoid synostosis... OMIM:618577
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar cre... ORPHA:2437
Microphthalmia/Coloboma 6
Coloboma OMIM:613703
Joubert Syndrome 22
Coloboma, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe syndactyly OMIM:615665
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... OMIM:225280
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Short stature, Cleft palate, Intrau... ORPHA:1393
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Short stature, Holoprosencephaly, B... ORPHA:2163
Diaphanospondylodysostosis
Short thorax, Enlarged thorax, Myelomeningocele, Missing ribs, Cleft palate, Narrow pelvis bone ORPHA:66637
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele, Cleft palate OMIM:241800
Muenke Syndrome
Brachycephaly, Plagiocephaly, Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epi... OMIM:602849
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Waardenburg Syndrome Type 1
Cleft palate, Spina bifida, Meningocele ORPHA:894
Craniofacial Dyssynostosis With Short Stature
Brachycephaly, Hydrocephalus, Brachyturricephaly, Short stature, Frontal bossing, Abnormal shape ... OMIM:218350
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty... ORPHA:93323
Joubert Syndrome 9
Encephalocele OMIM:612285
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, Proximal placement of thumb, Alobar holoprosencephaly, Dolichocephaly OMIM:615433
Muenke Syndrome
Brachycephaly, Plagiocephaly, Tarsal synostosis, Hydrocephalus, Short foot, Coronal craniosynosto... ORPHA:53271
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Short finger, Coloboma, 2-3 toe syndactyly, Tapered finger, Pectus excavatum, Long fingers, Broad... OMIM:618659
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Metacarpal synostosis, Brachydactyly ORPHA:35099
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Brachycephaly, Bilateral single transverse palmar creases, Inguinal hernia, Hydrocephalus, Campto... ORPHA:459061
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Cornelia De Lange Syndrome 2
Postnatal growth retardation, Brachycephaly, Limited elbow movement, Proximal placement of thumb,... OMIM:300590
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Hydrocephalus, Cloverleaf skull, Shortening of all middle phalanges... OMIM:101600
Coffin-Lowry Syndrome
Inguinal hernia, Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Singl... OMIM:303600
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Iniencephaly
Orofacial cleft, Syringomyelia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomenin... ORPHA:63259
Pseudoprogeria Syndrome
Cranium bifidum occultum ORPHA:2985
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Boomerang Dysplasia
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Narrow ches... ORPHA:1263
Bartsocas-Papas Syndrome 1
Tessier cleft, Inguinal hernia, Ulnar bowing, Hypoplastic iliac wing, Oligodactyly, Short metacar... OMIM:263650
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Turricephaly, Hydrocephalus, Bowing of the long bones, Short palm, Radioulnar syno... ORPHA:171839
Joubert Syndrome 23
Polydactyly, Coloboma OMIM:616490
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Lissencephaly 8
Occipital encephalocele OMIM:617255
Distal Deletion 13Q
Abnormality of the hand, Anencephaly, Encephalocele, Abnormal metacarpal morphology, Abnormal car... ORPHA:1590
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pa... OMIM:619721
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Cleft palate, Spina bifida OMIM:616038
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Summitt Syndrome
Plagiocephaly, Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndacty... ORPHA:3210
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Brachycephaly, Encephalocele, Finger syndactyly, Broad thumb, Flat occiput, Broad hallux phalanx,... ORPHA:2211
3Mc Syndrome 3
Tessier cleft, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly OMIM:248340
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Dolichocephaly, Atrial s... ORPHA:2475
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Turricephaly, Abnormal metacarpal morphology, Hydrocephalus, Frontal bossing, Brac... ORPHA:93262
Meckel Syndrome, Type 10
Occipital encephalocele, Cleft palate, Anencephaly OMIM:614175
Cleidocranial Dysplasia, Recessive Form
Brachycephaly, Severe short stature OMIM:216330
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polydactyly, Ventricular septal defect, Syndactyly OMIM:602501
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Sho... ORPHA:88630
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Fountain Syndrome
Short stature, Spina bifida occulta, Spina bifida ORPHA:3219
Cree Mental Retardation Syndrome
Rocker bottom foot, Cleft soft palate, Coloboma, Pectus excavatum, Cutaneous finger syndactyly, A... OMIM:606851
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ... OMIM:616602
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:93274
Charlie M Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Non-midline cleft of the ... ORPHA:1406
15Q24 Microdeletion Syndrome
Abnormal thumb morphology, Proximal placement of thumb, Coloboma, Myelomeningocele, Abnormal toe ... ORPHA:94065
Band Heterotopia
Hydrocephalus, Plagiocephaly OMIM:600348
Triploidy
Meningocele, Hydrocephalus, Abnormal cardiac septum morphology, Finger syndactyly, Omphalocele, H... ORPHA:3376
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Encephalocele, Midline facial cleft, Remnants of the hyaloid vascular system... OMIM:603671
Frontorhiny
Cranium bifidum occultum, Cleft palate, Basal encephalocele, Encephalocele ORPHA:391474
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... ORPHA:370010
2Q31.1 Microdeletion Syndrome
Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Inguinal h... ORPHA:251014
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Bilateral single transverse palmar creases, Brachycephaly, Abnormal thumb morphology, Abnormality... ORPHA:2511
Pentalogy Of Cantrell
Orofacial cleft, Anencephaly, Encephalocele, Hydrocephalus, Non-midline cleft of the upper lip, C... ORPHA:1335
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Sprengel anomaly, Syndactyly, ... OMIM:173800
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
3C Syndrome
Abnormal hip bone morphology, Prominent occiput, Pulmonic stenosis, Abnormal mitral valve morphol... ORPHA:7
Joubert Syndrome 7
Encephalocele OMIM:611560
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Brachycephaly, Finger syndactyly, Short stature, Hand... ORPHA:2377
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Coloboma, Short long bone, Metaphyse... ORPHA:85167
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensibility of the finger joint... OMIM:618821
Potocki-Shaffer Syndrome
Brachycephaly, Turricephaly, Parietal foramina, Single transverse palmar crease, 2-5 finger cutan... OMIM:601224
Bresek Syndrome
Plagiocephaly, Hydrocephalus, Postaxial hand polydactyly, Growth delay, Intrauterine growth retar... ORPHA:85284
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Cleft palate, Brachyd... ORPHA:306542
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Spinal dysraphism, Tethered cord, Short stature OMIM:617660
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Orofacial cleft, Clinodactyly of the 5th finger, Sandal gap, Finger... ORPHA:1520
Monosomy 5P
Inguinal hernia, Finger syndactyly, Short stature, Intrauterine growth retardation, Small hand ORPHA:281
Neurogenic Arthrogryposis Multiplex Congenita
Rocker bottom foot, Plagiocephaly, Elbow flexion contracture, Wrist flexion contracture, Hip cont... ORPHA:1143
Hypomelanosis Of Ito
Radial deviation of finger, Hand polydactyly, Syndactyly, Clinodactyly, Iris coloboma OMIM:300337
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Turricephaly, Finger syndactyly, Split hand, Micromelia, Short stature, Brachydact... ORPHA:2145
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele ORPHA:280195
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Inguinal hernia, Short distal phalanx of toe, Bipa... ORPHA:1292
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr... OMIM:617895
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Brachycephaly, Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Hydrocephalus, Femo... OMIM:207410
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism, Cleft palate ORPHA:1926
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Brachycephaly, Preaxial polydactyly, Ventricular septal defect, Bilateral talipes equinovarus, Po... OMIM:618142
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Joubert Syndrome With Renal Defect
Hydrocephalus, Orofacial cleft, Cleft palate, Encephalocele ORPHA:220497
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Clinodactyly of the 5th finger, Inguinal hernia, Single transverse palmar crease, Coloboma, Pectu... ORPHA:329224
Cutis Laxa, Autosomal Recessive, Type Iie
Deep palmar crease, Clinodactyly of the 5th finger, Inguinal hernia, Short thorax, Pectus excavat... OMIM:619451
6P22 Microdeletion Syndrome
Hydrocephalus, Finger syndactyly, Clinodactyly ORPHA:251046
Sclerosteosis
Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ... ORPHA:3152
ERI1-related disease
Brachycephaly, Limited elbow extension, Clinodactyly of the 5th finger, Inguinal hernia, Dislocat... OMIM:608739
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Neural tube defect, Clinodactyly OMIM:119580
Verheij Syndrome
Coloboma, Branchial cyst, Cleft palate, Short 5th finger, Clinodactyly, Hip dislocation OMIM:615583
Frontonasal Dysplasia 2
Tessier number 13 facial cleft, Intrauterine growth retardation, Encephalocele OMIM:613451
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact... ORPHA:392
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... OMIM:113000
Joubert Syndrome 14
Hydrocephalus, Cleft palate, Encephalocele, Meningocele OMIM:614424
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele... ORPHA:93322
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyl... OMIM:614701
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Clinodactyly of the 5th finger, Inguinal hernia, Short stature, Decreased palmar c... OMIM:615834
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Brachycephaly, Inguinal hernia, Patent foramen ovale, Camptodactyly, Bilateral talipes equinovaru... OMIM:615539
Crouzon Syndrome
Brachycephaly, Turricephaly, Hydrocephalus, Multiple suture craniosynostosis, Frontal bossing, Ir... ORPHA:207
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ... ORPHA:959
Joubert Syndrome With Ocular Defect
Hydrocephalus, Orofacial cleft, Cleft palate, Encephalocele ORPHA:220493
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Meningocele, Spina bifida occulta, Finger syndactyly, Short thorax, Abnormal rib... ORPHA:2311
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma OMIM:274270
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog... ORPHA:1788
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Cleft palate, Syndactyly OMIM:300484
Alkuraya-Kucinskas Syndrome
Plagiocephaly, Overlapping fingers, Hydrocephalus, Camptodactyly, Pericardial effusion, Hand clen... OMIM:617822
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Brachycephaly, Flat occiput, Atrioventricular canal defect, Short s... OMIM:613792
Limb-Mammary Syndrome
Split hand, Camptodactyly, Split foot, Cleft palate, Syndactyly, Hallux valgus, Joint contracture... OMIM:603543
Houge-Janssens Syndrome 2
Plagiocephaly, Hydrocephalus, Postaxial polydactyly, Broad hallux, Deviation of the 5th finger, H... OMIM:616362
Congenital Vertical Talus
Rocker bottom foot, Equinus calcaneus, Myelomeningocele ORPHA:178382
Isolated Hemihyperplasia
Inguinal hernia, Myelomeningocele, Asymmetry of the thorax ORPHA:2128
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Brachycephaly, Plagiocephaly, Transposition of the great arteries, Coloboma, Patent foramen ovale... OMIM:616789
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele ORPHA:521308
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato... ORPHA:2251
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Flat occiput OMIM:618736
Congenital Heart Defects And Ectodermal Dysplasia
Brachycephaly, 2-3 toe cutaneous syndactyly, Atrioventricular canal defect, Broad thumb, Frontal ... OMIM:617364
Joubert Syndrome
Hydrocephalus, Orofacial cleft, Encephalocele ORPHA:475
Fraser Syndrome 1
Tessier cleft, Encephalocele, Aplasia/Hypoplasia of the thumb, Hydrocephalus, Myelomeningocele, C... OMIM:219000
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the hand, Ventricular septal defect,... ORPHA:94066
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Cleft palate, Encephalocele OMIM:224400
Treacher-Collins Syndrome
Tessier cleft, Cleft palate, Branchial fistula, Encephalocele ORPHA:861
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly, Hydrocephalus, Short stature, Coxa valga, Hip dislocation OMIM:109120
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Cleft palate, Syndactyly... OMIM:605282
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response ORPHA:309246
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Sandal gap, Enlarged metaphyses, Dislocated radial head, Mitral valve prolapse, Left ventricular ... OMIM:245600
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3... OMIM:236500
Richieri-Costa/Guion-Almeida Syndrome
Brachycephaly, Spina bifida occulta, Abnormal digit morphology, Short stature, Palmoplantar cutis... OMIM:268850
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft palate, Meningocele ORPHA:1827
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
Isolated Split Hand-Split Foot Malformation
Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Waardenburg Syndrome, Type 1
Orofacial cleft, Myelomeningocele, Spina bifida OMIM:193500
Coach Syndrome 2
Hydrocephalus, Coloboma, Chorioretinal coloboma OMIM:619111
Aarskog-Scott Syndrome
Orofacial cleft, Clinodactyly of the 5th finger, Inguinal hernia, Finger syndactyly, Single trans... ORPHA:915
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Cleft palate, Anencephaly OMIM:612284
Apert Syndrome
Limited elbow movement, Brachyturricephaly, Broad thumb, Syndactyly, Craniosynostosis, Hydrocepha... OMIM:101200
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Brachycephaly, Flat occiput, Hyperextensibility of the finger joints, Short stature, Arachnodacty... ORPHA:505237
Bardet-Biedl Syndrome 8
Brachycephaly, Situs inversus totalis, Postaxial polydactyly OMIM:615985
Orofaciodigital Syndrome Ii
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Hydrocephalus... OMIM:252100
Adams-Oliver Syndrome
Abnormal metacarpal morphology, Encephalocele, Hydrocephalus, Absent toe, Abnormality of the uppe... ORPHA:974
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Cranial asymmetry, Short stature, Growth delay, Double outlet right ventricle, Atr... OMIM:614886
Pierpont Syndrome
Brachycephaly, Short finger, Deep palmar crease, Prominent fingertip pads, Short stature, Short p... OMIM:602342
Contractural Arachnodactyly, Congenital
Brachycephaly, Limited elbow extension, Talipes equinovarus, Elbow flexion contracture, Wrist fle... OMIM:121050
Coach Syndrome 1
Occipital encephalocele, Encephalocele OMIM:216360
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:1319
Recombinant Chromosome 8 Syndrome
Postnatal growth retardation, Brachycephaly, Clinodactyly of the 5th finger, Camptodactyly, Growt... OMIM:179613
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele ORPHA:228390
Chromosome 17P13.1 Deletion Syndrome
Brachycephaly, Plagiocephaly, Turricephaly, Proximal placement of thumb, Hydrocephalus, Elbow fle... OMIM:613776
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Cloverleaf skull, Finge... ORPHA:93259
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Brachycephaly, Plagiocephaly, Abnormality of the hand, Patent foramen ovale, Camptodactyly, Short... ORPHA:369891
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Triphalangeal thumb, Finger syndactyly, Trigonocephaly, Frontal bossing, Short s... ORPHA:2994
Trisomy 18
Anencephaly, Non-midline cleft of the upper lip, Spina bifida, Short stature, Growth delay, Cleft... ORPHA:3380
Chromosome 6Pter-P24 Deletion Syndrome
Brachycephaly, Rocker bottom foot, Clinodactyly of the 5th finger, Hydrocephalus, Broad toe, Pate... OMIM:612582
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia, Meningocele ORPHA:1759
Curry-Jones Syndrome
Finger syndactyly, Foot polydactyly, Broad thumb, Abnormality of thumb phalanx, Optic disc colobo... ORPHA:1553
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Occipital encephalocele ORPHA:370959
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Brachycephaly, Short stature ORPHA:2528
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... OMIM:135750
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb ORPHA:1825
Schizophrenia 1
Short stature, Frontal bossing, Short proximal phalanx of the 4th toe, Syndactyly, Flat occiput OMIM:181510
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Cleft palate, Encephalocele ORPHA:1865
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Prominent occiput, Dolichocephaly, ... OMIM:618672
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput ORPHA:46
Cooper-Jabs Syndrome
Brachycephaly, Abnormal hip bone morphology, Proximal placement of thumb, Short stature, Frontal ... ORPHA:1488
Osteopathia Striata-Cranial Sclerosis Syndrome
Brachycephaly, Abnormal metaphysis morphology, Spina bifida occulta, Large iliac wing, Aortic val... ORPHA:2780
Kury-Isidor Syndrome
Brachycephaly, Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Growth delay, ... OMIM:619762
Pseudodiastrophic Dysplasia
Brachycephaly, Rhizomelia, Camptodactyly, Frontal bossing, Severe short stature, Phalangeal dislo... OMIM:264180
2Q32Q33 Microdeletion Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Short stature, Arachnodactyly, Broad thumb, Growth... ORPHA:251019
Holoprosencephaly 1
Tessier cleft, Alobar holoprosencephaly, Median cleft palate, Short stature, Ethmocephaly, Single... OMIM:236100
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Coloboma, Patellar hypoplasia, Brachydactyly, Short fourth metatarsal ORPHA:464288
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Genu varum, Coxa valga, Hypop... ORPHA:950
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Polydactyly, Small placenta, Clinodactyly of the 5th finger, Inguin... ORPHA:397590
Curry-Jones Syndrome
Unicoronal synostosis, Bicoronal synostosis, Triphalangeal hallux, Lipomyelomeningocele, Broad th... OMIM:601707
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Narrow chest, Short long bone, Flat acetabular roof, Bowing of the long bones, Short... OMIM:614091
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Thoracic kyphosis, Pectus excavatum, Arachnodactyly, Syndactyly, Clinodactyly OMIM:619092
Inverted Duplicated Chromosome 15 Syndrome
Brachycephaly, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Growth delay, Tetralogy of Fal... ORPHA:3306
Weaver Syndrome
Abnormal metaphysis morphology, Sandal gap, Inguinal hernia, Finger syndactyly, Broad thumb, Camp... ORPHA:3447
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Hip subluxation OMIM:620200
Chromosome 13Q33-Q34 Deletion Syndrome
Brachycephaly, Anencephaly, Encephalocele, Single transverse palmar crease, Small thenar eminence... OMIM:619148
Global Developmental Delay With Or Without Impaired Intellectual Development
Plagiocephaly, Short stature, Frontal bossing, Atrial septal defect, Ventricular septal defect OMIM:618330
Lessel-Kreienkamp Syndrome
Plagiocephaly, Clinodactyly of the 5th finger, Patent foramen ovale, Pulmonic stenosis, Frontal b... OMIM:619149
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Limited elbow movement, Ventricular hypertrophy, Cardiomyopathy, Brachyt... OMIM:300280
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Thickened calvaria ORPHA:178377
Acrodysostosis 1 With Or Without Hormone Resistance
Brachycephaly, Short metatarsal, Disproportionate short-limb short stature, Cone-shaped epiphyses... OMIM:101800
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Tethered cord OMIM:612918
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Narrow chest, Short clavicles, Single transverse palmar crease, Short... OMIM:615777
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida ORPHA:3412
Verloove Vanhorick-Brubakk Syndrome
Abnormal femur morphology, Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Cornelia De Lange Syndrome 5
Postnatal growth retardation, Brachycephaly, Limited elbow extension, Clinodactyly of the 5th fin... OMIM:300882
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormality of the hand, Clinodactyly of the 5th finger, Coloboma, Short 5th finger, 2-3 toe synd... ORPHA:508498
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Filippi Syndrome
Postnatal growth retardation, Finger clinodactyly, Single transverse palmar crease, Cutaneous syn... OMIM:272440
Fetal Trimethadione Syndrome
Brachycephaly, Bilateral single transverse palmar creases, Transposition of the great arteries, T... ORPHA:1913
8Q12 Microduplication Syndrome
Brachycephaly, Atrial septal defect, Ventricular septal defect, Short foot ORPHA:228399
Arthrogryposis, Distal, Type 4
Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Single transverse palmar crease, Cran... OMIM:609128
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Brachycephaly, Short metatarsal, Upper limb undergrowth, Bilateral ... ORPHA:439822
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Brachycephaly OMIM:300699
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Non-Distal Duplication 10Q
Short stature, Frontal bossing, Brachycephaly ORPHA:1695
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Brachycephaly, Flat occiput, Short stature, Broad thumb, Down-sloping shoulders, Intrauterine gro... OMIM:617452
Alg3-Cdg
Cardiomyopathy, Metaphyseal chondrodysplasia, Neural tube defect, Abnormal limb bone morphology ORPHA:79321
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft of the upper lip, Bilateral cleft palate, Meningocele ORPHA:2003
Nail-Patella Syndrome
Short stature, Cleft palate, Spina bifida OMIM:161200
Neu-Laxova Syndrome
Intrauterine growth retardation, Submucous cleft hard palate, Cleft palate, Spina bifida ORPHA:2671
Monosomy 18P
Short stature, Holoprosencephaly, Brachydactyly, Brachycephaly ORPHA:1598
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Neonatal death, S... OMIM:609638
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly, Omphalocele OMIM:601163
Intellectual Developmental Disorder, Autosomal Dominant 66
Brachycephaly, Plagiocephaly, Transposition of the great arteries, Clinodactyly of the 5th finger... OMIM:619910
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Tethered cord, Myelome... OMIM:600145
Pontocerebellar Hypoplasia, Type 11
Coloboma, Talipes equinovarus OMIM:617695
Limb Body Wall Complex
Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Myelomeningocele, Split foot,... ORPHA:2369
Fg Syndrome Type 1
Plagiocephaly, Abnormal thumb morphology, Inguinal hernia, Prominent occiput, Hydrocephalus, Clin... ORPHA:93932
Baraitser-Winter Syndrome 2
Orofacial cleft, Coloboma OMIM:614583
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Tethered cord,... ORPHA:268810
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Meckel Syndrome 14
Occipital encephalocele, Postaxial hand polydactyly, Bowing of the long bones, Decreased calvaria... OMIM:619879
Thrombocytopenia-Absent Radius Syndrome
Cervical ribs, Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, F... ORPHA:3320
Vacterl/Vater Association
Non-midline cleft of the upper lip, Occipital encephalocele, Cleft palate, Anencephaly ORPHA:887
Pierpont Syndrome
Brachycephaly, Short finger, Deep palmar crease, Prominent fingertip pads, Excessive wrinkling of... ORPHA:487825
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Finger syndactyly, Foot polydactyly, Frontal bossing, Hand polydactyly, Toe syndac... ORPHA:60040
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Postnatal growth retardation, Brachycephaly OMIM:309545
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Brachycephaly, Clinodactyly of the 5th finger, Clinodactyly of the 2nd finger, Broad thumb, Short... OMIM:620073
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Plagiocephaly, Acetabular dysplasia, Hammertoe, Hydrocephalus, Short stature, Hip dysplasia, Intr... OMIM:619833
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Patent foramen ovale, Abnormal heart morphology, Umbilical hernia, Bicuspid aortic... ORPHA:500159
Coffin-Siris Syndrome 6
Plagiocephaly, Short stature, Frontal bossing, Brachydactyly, Atrial septal defect, Clinodactyly OMIM:617808
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele, Median cleft palate OMIM:264480
Opitz-Kaveggia Syndrome
Plagiocephaly, Radial deviation of finger, Inguinal hernia, Hydrocephalus, Single transverse palm... OMIM:305450
Moebius Syndrome
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Sh... OMIM:157900
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Multicentric Osteolysis, Nodulosis, And Arthropathy
Thin metacarpal cortices, Wrist flexion contracture, Broad metatarsal, Mitral valve prolapse, Ost... OMIM:259600
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... ORPHA:1106
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Hypopl... OMIM:607323
Distal Deletion 10Q
Postnatal growth retardation, Brachycephaly, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5t... ORPHA:96148
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndact... OMIM:217085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Coloboma OMIM:613153
Filippi Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ... ORPHA:3255
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Short long bone, Femoral bowing, Short... OMIM:615503
Otodental Dysplasia
Coloboma OMIM:166750
Joubert Syndrome 8
Occipital encephalocele OMIM:612291
Craniosynostosis 2
Brachycephaly, Turricephaly, Triphalangeal thumb, Unicoronal synostosis, Bicoronal synostosis, Tr... OMIM:604757
German Syndrome
Brachycephaly, Short stature, Camptodactyly of finger, Dolichocephaly, Tetralogy of Fallot, Abnor... ORPHA:2077
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Foot oligodactyly, Syndactyly, Brachydactyly, Calv... OMIM:616589
Cleidocranial Dysplasia
Brachycephaly, Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal m... ORPHA:1452
Stevenson-Carey Syndrome
Joint contracture of the hand, Coloboma, Camptodactyly, Hip dysplasia OMIM:611961
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Abnormal metaphysis morphology, Narrow chest, Abnormal pelvis bone ossification, S... ORPHA:93271
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl... OMIM:608643
Even-Plus Syndrome
Brachycephaly, Patent foramen ovale, Epiphyseal dysplasia, Severe short stature, Dysplasia of the... OMIM:616854
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly OMIM:619091
Cutis Laxa, Autosomal Recessive, Type Iiia
Brachycephaly, Inguinal hernia, Congenital hip dislocation, Short stature, Frontal bossing, Umbil... OMIM:219150
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele OMIM:614195
Chromosome 2Q37 Deletion Syndrome
Brachycephaly, Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short stature, Sh... OMIM:600430
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Coloboma, Tibial bowing, Bilateral ... ORPHA:251028
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele OMIM:224410
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Brachycephaly, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis invol... ORPHA:371428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Cleft palate, Encephalocele OMIM:613150
Atelosteogenesis Type Ii
Sandal gap, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, Elbow flexion... ORPHA:56304
Houge-Janssens Syndrome 3
Plagiocephaly, Muscular ventricular septal defect, Inguinal hernia, Single transverse palmar crea... OMIM:618354
Grant Syndrome
Brachycephaly, Bowing of the long bones, Abnormal pelvic girdle bone morphology, Short stature, F... ORPHA:2097
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Palmar pits, Short distal phalanx of the thumb, Hydrocephalus,... OMIM:109400
Alagille Syndrome
Delayed puberty, Brachycephaly, Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bif... ORPHA:52
Endocrine-Cerebroosteodysplasia
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus, Single transve... OMIM:612651
Anauxetic Dysplasia 3
Plagiocephaly, Hip subluxation, Genu valgum, Broad middle phalanx of finger, Metaphyseal cupping,... OMIM:618853
Clark-Baraitser Syndrome
Brachycephaly, Dolichocephaly, Clinodactyly, Sandal gap OMIM:617752
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... ORPHA:2256
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Encephalocele, Hydrocephalus, Cleft palate, Holoprosencephaly, Umbilical hernia ORPHA:2166
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Clinodactyly of the 5th finger OMIM:167730
Cloacal Exstrophy