Registered for phenotyping at IMPC

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

Gene Summary

Name:
hedgehog acyltransferase
Synonyms:
2810432O22Rik,  Skn

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Increased skull ossification, Chorioretinal coloboma, Hyp... ORPHA:1422
Nivelon-Nivelon-Mabille Syndrome
Micromelia, Optic disc coloboma, Hypoplasia of the iris, Trapezoidal vertebral body, Male pseudoh... OMIM:600092

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Holoprosencephaly 7
Hypoplastic nasal septum, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Bilateral cleft... OMIM:610828
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida, Postaxial hand polydactyly ORPHA:945
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Ileal atresia, Micrognathia, Streak ovary, Cryptorchidism, Aplasia of the n... OMIM:618820
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidi... OMIM:146510
Acrofacial Dysostosis Syndrome Of Rodriguez
Wide nasal bridge, Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Prominent nose, Micro... OMIM:201170
Holoprosencephaly 2
Alobar holoprosencephaly, Chorioretinal coloboma, Aplasia of the nasal bone, Bilateral cleft pala... OMIM:157170
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia, Microglossia, Aplasia/Hypoplasia of the radius, Oli... ORPHA:1307
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda... ORPHA:3258
ERI1-related disease
Velopharyngeal insufficiency, Micrognathia, Finger joint hypermobility, Dislocated radial head, H... OMIM:608739
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly ORPHA:2730
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Arachnodactyly, Occipital encephalocele, Humeroradial synostosis OMIM:614416
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Micrognathi... OMIM:251230
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Limited elbow extension, Tapered finger OMIM:300706
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Depressed nasal ridge, Hip dislocation, Tooth agenesis, Bilateral cleft palate, Meningocele, Abse... ORPHA:2003
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Bifid nasal tip, Clinodactyly of the 3rd toe, Downturned corn... ORPHA:521308
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Abnormal bone ossification, Flattened epiphysis, Microphthalmia, High palate, Flat ... ORPHA:163649
Microhydranencephaly, X-Linked
Intrauterine growth retardation, Holoprosencephaly OMIM:306990
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Pierpont Syndrome
Cryptorchidism, Everted lower lip vermilion, Microphthalmia, Short foot, Short nose, Wide nose, M... OMIM:602342
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Syntelencephaly, Hydrocephalus, Holoprosen... OMIM:609637
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Narr... OMIM:218600
Vissers-Bodmer Syndrome
Intrauterine growth retardation, Holoprosencephaly, Tapered finger OMIM:619033
Pierpont Syndrome
Microcornea, Prominent fingertip pads, Short toe, Widely spaced teeth, Short finger, Excessive wr... ORPHA:487825
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Wide nasal bridge, Abnormal vertebral morphology, Clinodactyly, ... ORPHA:166024
Frontonasal Dysplasia 1
Joint contracture of the hand, Clinodactyly, Agenesis of corpus callosum, Microphthalmia, Bifid n... OMIM:136760
Pallister-Hall Syndrome
Small scrotum, Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Hydrometrocolpos, Hypopit... ORPHA:672
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Megalocornea, Cryptorchidism, Everted lower lip vermilion, Short f... ORPHA:915
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Hand muscle atrophy OMIM:183020
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Microcornea, Downturned corners... ORPHA:1327
Short Stature-Wormian Bones-Dextrocardia Syndrome
Wide nasal bridge, Midshaft hypospadias, Broad alveolar ridges, Delayed eruption of teeth, Campto... ORPHA:2863
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Micrognathia, Cryptorchidism, Agenesis of corpus ca... OMIM:214150
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Hypospadias, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thi... OMIM:619736
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Hypoplastic labi... OMIM:263650
Pyle Disease
Platyspondyly, Mandibular prognathia, Carious teeth, Delayed eruption of teeth, Absent paranasal ... OMIM:265900
Orofaciodigital Syndrome Type 10
Short tibia, Fibular aplasia, Micrognathia, Cleft soft palate, Tarsal synostosis, Mesomelic arm s... ORPHA:2756
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Cataract, Rhizomelia, Platyspondyly, Abnormal epiphysis morphology, Downturned... ORPHA:93267
Holoprosencephaly 4
Depressed nasal bridge, Semilobar holoprosencephaly, Depressed nasal tip, Median cleft palate, Me... OMIM:142946
Cerebrooculofacioskeletal Syndrome 3
Edema, Intrauterine growth retardation, Micrognathia, Agenesis of corpus callosum, Talipes equino... OMIM:616570
Warburg Micro Syndrome 1
Wide nasal bridge, Microcornea, Anteverted nares, Micrognathia, External genital hypoplasia, Cryp... OMIM:600118
Acrodysostosis
Abnormal female external genitalia morphology, Open bite, Open mouth, Cryptorchidism, Bowing of t... ORPHA:950
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Retrognathia, Hypogonadism, Narrow mouth, Brachycephaly, Microphthalmia, H... ORPHA:2528
Cataract-Intellectual Disability-Hypogonadism Syndrome
Depressed nasal bridge, Cataract, Tooth malposition, Ulnar deviation of finger, Furrowed tongue, ... ORPHA:1387
Carey-Fineman-Ziter Syndrome 2
High, narrow palate, Dental crowding, Velopharyngeal insufficiency, Underdeveloped nasal alae, Do... OMIM:619941
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Finger syndactyly, Micromelia, Intrauterine growth retardation, Encephalocele,... ORPHA:1908
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness OMIM:607641
Cofs Syndrome
Wide nasal bridge, Cataract, Camptodactyly of finger, Hypogonadism, Intrauterine growth retardati... ORPHA:1466
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Microphthalmia, Iris coloboma, Cataract, M... ORPHA:2712
49,Xxxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96264
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation, Micrognathia, Cryptorch... OMIM:615524
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo... OMIM:101800
Marden-Walker Syndrome
Joint contracture of the hand, Micrognathia, Narrow mouth, Cryptorchidism, Agenesis of corpus cal... OMIM:248700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Hypoplasia of the pons, Intrauterine growth retardation, Micrognathia, Pro... OMIM:616171
Hallermann-Streiff Syndrome
Natal tooth, Chorioretinal coloboma, Micrognathia, Narrow mouth, Cryptorchidism, Telangiectasia, ... OMIM:234100
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Elbow dislocation, Micrognathia, Cryptorchidism, Bilateral single tra... ORPHA:199
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Narro... OMIM:200990
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Encephalocele, Cryptorchidism, Molar tooth sign on MRI, Microphthalmia,... OMIM:616300
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, M... OMIM:206920
Moebius Syndrome
Hand clenching, Clinodactyly, Micrognathia, Lower limb undergrowth, Talipes equinovarus, Micropht... OMIM:157900
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Osteopathia striata, Genu valgum, Apl... ORPHA:93357
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Bifid nasal tip, Broad nasal tip, Retrognathia, Umbilical hernia, Oligodactyly, Median pseudoclef... OMIM:619758
Premature Aging Syndrome, Penttinen Type
Micrognathia, Aplasia of the nasal bone, Flexion contracture of finger, Microphthalmia, Short foo... OMIM:601812
X-Linked Intellectual Disability, Snyder Type
Narrow mouth, Cryptorchidism, Arachnodactyly, Everted lower lip vermilion, Cerebral edema, High p... ORPHA:3063
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Micrognathia, Open mouth, Encephalocele, Cryptorchidism, Irregular dentition, Ag... OMIM:619148
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Third degree atrioventricular block, Abnormality of the calcaneus, Ante... ORPHA:40366
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial foot polydactyly, Micrognathia, Cryptorchidism, Microphthalmia, Downturned corners of m... ORPHA:404440
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Flattened epiphysis, Dislocated radial head, High palate, Short me... OMIM:612350
Coffin-Siris Syndrome 2
Depressed nasal bridge, Short distal phalanx of finger, Delayed eruption of teeth, Long philtrum,... OMIM:614607
Isolated Arrhinia
Tessier cleft, Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the n... ORPHA:1134
Temtamy Syndrome
Short toe, Chorioretinal coloboma, Thick lower lip vermilion, Micrognathia, Clinodactyly of the 5... ORPHA:1777
Joubert Syndrome 37
Wide nasal bridge, Decreased testicular size, Anteverted nares, Lumbar hyperlordosis, Cryptorchid... OMIM:619185
Joubert Syndrome 18
Occipital encephalocele, Retrognathia, Intrauterine growth retardation, Trident pelvis, Joint hyp... OMIM:614815
Frontonasal Dysplasia 2
Tessier number 13 facial cleft, Encephalocele, Aplasia of the nasal bone, Microphthalmia, Depress... OMIM:613451
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Martsolf Syndrome 1
Tooth malposition, Micrognathia, Cryptorchidism, Talipes equinovarus, Broad fingertip, Microphtha... OMIM:212720
Frank-Ter Haar Syndrome
Wide nasal bridge, Depressed nasal bridge, Kyphosis, Delayed eruption of teeth, Umbilical hernia,... ORPHA:137834
Craniolenticulosutural Dysplasia
Carious teeth, Cryptorchidism, High palate, Osteopenia, Thin upper lip vermilion, Narrow iliac wi... OMIM:607812
48,Xxyy Syndrome
Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchidism, Radioulna... ORPHA:10
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Cryptorchidism, Short nose, Oligodont... OMIM:616331
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Holoprosencephaly, Hydrocephalus OMIM:617967
Otodental Syndrome
Carious teeth, Periodontitis, Microphthalmia, Lens coloboma, Iris coloboma, Cataract, Microcornea... ORPHA:2791
Lowry-Maclean Syndrome
Megalocornea, Micrognathia, Delayed eruption of primary teeth, Midgut malrotation, Hypospadias, S... ORPHA:2409
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Abnormal dental mor... ORPHA:2025
Lowry-Maclean Syndrome
Delayed eruption of teeth, Intrauterine growth retardation, Convex nasal ridge, Craniosynostosis,... OMIM:600252
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Aplasia/Hypoplasia of the distal phalanges of the han... OMIM:113000
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi... ORPHA:1452
Mmep Syndrome
Cryptorchidism, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Microphthalmia, Man... ORPHA:3434
48,Xxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96263
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Anteverted nares, Agenesis of premolar, Taurodontia, Co... OMIM:166750
Laron Syndrome
Depressed nasal ridge, Hypoplastic nasal bridge, Delayed eruption of teeth, Aplasia/Hypoplasia in... ORPHA:633
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Intrauterine growth retardation, Encephalocele, Split hand, Lob... ORPHA:2117
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Holoprosencephaly, Anterior encephalocele, Short femur OMIM:601357
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas... OMIM:618761
Odontochondrodysplasia
Platyspondyly, Depressed nasal bridge, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square p... ORPHA:166272
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Micrognathia, Flat occiput, High, narrow palate, Cataract, Coarse metaphys... ORPHA:2780
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... OMIM:268310
Clark-Baraitser syndrome
Broad nasal tip, Exaggerated median tongue furrow, Scoliosis, Thick lower lip vermilion, Frontal ... OMIM:300602
Osteoglosphonic Dysplasia
Choanal atresia, Rhizomelia, Abnormal form of the vertebral bodies, Tooth agenesis, Anteverted na... ORPHA:2645
Joubert Syndrome 14
Hypoplasia of the brainstem, Prominent nasal bridge, Open mouth, Encephalocele, Malar flattening,... OMIM:614424
Osteogenesis Imperfecta, Type Xii
Depressed nasal bridge, Hypermobility of interphalangeal joints, Dentinogenesis imperfecta, Delay... OMIM:613849
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Scoliosis, Dental crowding, Delayed eruption of teeth, Underdeveloped nasal alae, Long philtrum, ... OMIM:618825
Bresek Syndrome
Plagiocephaly, Decreased testicular size, Intrauterine growth retardation, Microphthalmia, Crypto... ORPHA:85284
Al-Gazali-Bakalinova Syndrome
Wide nasal bridge, Depressed nasal bridge, Epiphyseal dysplasia, Clinodactyly, Lymphedema, Genu v... OMIM:607131
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced t... OMIM:619797
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Chorioretinal coloboma, Short first metatarsal, Anteverted nares, Epiphysea... OMIM:619135
Orofaciodigital Syndrome Type 6
Micrognathia, Molar tooth sign on MRI, Foot polydactyly, High palate, Biparietal narrowing, Synda... ORPHA:2754
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Narrow palm, Holoprosencephaly, Syndactyly ORPHA:1445
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Wide nasal bridge, Retrognathia, Chorioretinal coloboma, Long philtrum, Cl... OMIM:243310
17Q11.2 Microduplication Syndrome
Thick nasal alae, Abnormal dental enamel morphology, Malar flattening, Deviated nasal septum, Ena... ORPHA:139474
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Camptodactyly of finger, Intrauterine growth retardation, Adducted thumb, Holopr... ORPHA:2570
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness, Micrognat... ORPHA:1388
2Q24 Microdeletion Syndrome
Cataract, Hand clenching, Toe syndactyly, Abnormality iris morphology, Bullet-shaped distal phala... ORPHA:1617
Apert Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Agenesis of corpus callosum, Aplasia/Hypoplasia o... ORPHA:87
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Depressed nasal ridge, Palmoplantar keratoderma, Delayed eruption of teeth, Decreased fertility, ... ORPHA:1816
Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence OMIM:261800
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Adducted thumb ORPHA:2182
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Depressed nasal bridge, Small scrotum, Conical tooth, Abnormality of th... ORPHA:228390
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
3M Syndrome
Decreased fertility, Everted lower lip vermilion, Hypoplastic ischia, Hypospadias, Abnormality of... ORPHA:2616
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f... OMIM:180700
Mulibrey Nanism
Absent frontal sinuses, Iris coloboma, Wide nose, Ascites, Hypodontia, Hydrops fetalis, Corneal d... OMIM:253250
Hydrolethalus
Bifid uvula, Gingival cleft, Retrognathia, Unilateral cleft lip, Micromelia, Micrognathia, Microp... ORPHA:2189
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Abnormal metacarpal morp... ORPHA:1590
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Agenesis of corpus c... ORPHA:1692
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Retrognathia, Volvulus, Brachyturricephaly, Encephalocele, Abnormal... ORPHA:314621
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndacty... OMIM:186500
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Cryptorchidism, Abnor... ORPHA:251014
Monosomy 18P
Wide nasal bridge, Tooth malposition, Carious teeth, Downturned corners of mouth, Lymphedema, Mic... ORPHA:1598
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Clinodactyly, Cryptorchidism, Short foot, Curved ... OMIM:305400
Treacher-Collins Syndrome
Small scrotum, Open bite, Micrognathia, Narrow mouth, Encephalocele, Cryptorchidism, Microphthalm... ORPHA:861
Pycnodysostosis
Small hand, Carious teeth, Hypoplastic iliac wing, Micrognathia, Delayed eruption of primary teet... ORPHA:763
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Whistling Face Syndrome, Recessive Form
Whistling appearance, Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Unde... OMIM:277720
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Open mouth, Cryptorchidism, High palate, Short nose, Syndactyly, Plagiocephaly, Dow... ORPHA:369891
X-Linked Hypohidrotic Ectodermal Dysplasia
Depressed nasal ridge, Short distal phalanx of finger, Type I diabetes mellitus, Everted upper li... ORPHA:181
Trisomy 13
Cryptorchidism, Bilateral single transverse palmar creases, Displacement of the urethral meatus, ... ORPHA:3378
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, P... ORPHA:1106
Joubert Syndrome 36
Mesoaxial hand polydactyly, Anteverted nares, Open mouth, Molar tooth sign on MRI OMIM:618763
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Finger syndactyly, Narrow mouth, Cryptorchidism, Arachnodactyly, Talipes equinovar... ORPHA:2215
Microphthalmia, Syndromic 8
Microcornea, Mandibular prognathia, Cleft upper lip, Split foot, Cryptorchidism, Orofacial cleft,... OMIM:601349
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout... OMIM:257850
Cohen Syndrome
Finger syndactyly, Micrognathia, Open mouth, Cryptorchidism, Genu valgum, Narrow palm, Arachnodac... ORPHA:193
Spinocerebellar Ataxia, Autosomal Recessive 20
Wide nasal base, Dental crowding, Delayed eruption of teeth, Long philtrum, Clinodactyly, Bulbous... OMIM:616354
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Trigonocephaly, Anteverted nares, Delayed eruption of permanent teeth, Exaggerated cupid's bow, T... OMIM:618506
Thanatophoric Dysplasia Type 2
Micromelia, Encephalocele, Hydrocephalus, Brachydactyly, Holoprosencephaly, Abnormal metaphysis m... ORPHA:93274
Frontorhiny
Cranium bifidum occultum, Cataract, Hypoplasia of the maxilla, Scoliosis, Finger clinodactyly, Ca... ORPHA:391474
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... OMIM:235510
Orofaciodigital Syndrome Xv
Wide nasal bridge, Midline notch of upper alveolar ridge, Broad hallux, Anteverted nares, Agenesi... OMIM:617127
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Micrognathia, Cryptorchidism, Agenesis of corpus callos... ORPHA:96170
Temtamy Syndrome
Aortic regurgitation, Ectopia lentis, Dental crowding, Chorioretinal coloboma, Long philtrum, Fro... OMIM:218340
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Micrognathia, 2-3 finger syndactyly, Microphthalmia, High, narrow p... ORPHA:435638
Temple-Baraitser Syndrome
Broad thumb, Everted upper lip vermilion, Long hallux, Open mouth, Everted lower lip vermilion, H... ORPHA:420561
Coffin-Siris Syndrome 3
Depressed nasal bridge, Scoliosis, Long philtrum, Umbilical hernia, Intrauterine growth retardati... OMIM:614608
Microphthalmia/Coloboma 5
Holoprosencephaly OMIM:611638
Acrocraniofacial Dysostosis
Broad thumb, Micrognathia, Genu valgum, Choanal atresia, Ulnar deviation of finger, Short 1st met... ORPHA:949
Endocrine-Cerebroosteodysplasia
Small scrotum, Natal tooth, Thick upper lip vermilion, Micrognathia, Fibular bowing, Cryptorchidi... OMIM:612651
Cerebellar-Facial-Dental Syndrome
Wide nasal bridge, Cataract, Macrodontia of permanent maxillary central incisor, Abnormal midbrai... ORPHA:444072
Mosaic Trisomy 9
Limitation of joint mobility, Elbow dislocation, Micrognathia, Cryptorchidism, Talipes equinovaru... ORPHA:99776
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia involving the pe... ORPHA:3301
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Cryptorchidism, Bowing of the long bones, Chordee, Broad phala... OMIM:166250
Pseudopseudohypoparathyroidism
Depressed nasal bridge, Cataract, Delayed eruption of teeth, Pseudohypoparathyroidism, Enamel hyp... OMIM:612463
15Q24 Microdeletion Syndrome
Wide nasal base, Small hand, Clinodactyly, Narrow mouth, Cryptorchidism, Anal atresia, Hypospadia... ORPHA:94065
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Micrognathia, Narrow mouth, Cryptorchidism, Hypospadias, Cone-shaped epiphysis, Short toe, Brachy... OMIM:618659
Distal Monosomy 7Q36
Clinodactyly of the 5th finger, Holoprosencephaly, Bilateral single transverse palmar creases, Sy... ORPHA:1636
Warburg Micro Syndrome 3
Cataract, Microcornea, Narrow palate, Small scrotum, Downturned corners of mouth, Decreased testi... OMIM:614222
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Polyrrhinia
Abnormal external nose morphology, Lateral ventricle dilatation, Supernumerary naris, Orofacial c... ORPHA:141091
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased circulating parathyroid hormone level, Depressed nasal bridge, Patchy osteosclerosis, B... OMIM:241410
Bartsocas-Papas Syndrome 2
Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Prominent occiput, Microphthal... OMIM:619339
Micro Syndrome
Wide nasal bridge, Cataract, Microcornea, Kyphosis, Retinal coloboma, Intrauterine growth retarda... ORPHA:2510
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Finger syndactyly, Male urethral meatus stenosis, Clinodactyly, Lateral ... ORPHA:464738
Distal Duplication 18Q
Choanal atresia, Carious teeth, Deviation of finger, Camptodactyly of finger, Abnormal female ext... ORPHA:1716
Abruzzo-Erickson Syndrome
Hypospadias, Microcornea, Toe syndactyly, Ulnar deviation of finger, Short toe, Chorioretinal col... ORPHA:921
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Talipes equinovarus, Microphthalmia, High palate, Holoprose... OMIM:612530
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Limitation of joint mobility, Duodenal stenosis, Camptodactyly of finger, Micrognathia, Symphalan... ORPHA:2547
Emanuel Syndrome
Aortic valve stenosis, Micrognathia, Cryptorchidism, Delayed eruption of primary teeth, Anal atre... OMIM:609029
Codas Syndrome
Depressed nasal bridge, Cataract, Abnormal pelvic girdle bone morphology, Congenital hip dislocat... ORPHA:1458
Craniometadiaphyseal Dysplasia
Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Broad long bon... OMIM:269300
Char Syndrome
Depressed nasal bridge, Depressed nasal ridge, Toe syndactyly, Supernumerary nipple, Mesoaxial fo... ORPHA:46627
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Bidirectional ventricular ectopy, Micrognathia, High palate, Short fo... OMIM:170390
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Malar prominence, Intrauterine growth retardation, Micrognathia, Hypogonad... ORPHA:48431
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, Agenesis of corpus callosum, Molar t... OMIM:277170
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Gapo Syndrome
Keratoconus, Micrognathia, Decreased skull ossification, Dysmenorrhea, Everted lower lip vermilio... ORPHA:2067
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Abnormal female external genitalia morphology, Micrognat... ORPHA:235
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Hip dislocation, Microglossia, Occipital encephalocele, Toe syndactyly, P... OMIM:241800
Orofaciodigital Syndrome Xix
Carious teeth, Toe syndactyly, Postaxial foot polydactyly, Cleft soft palate, Narrow mouth, High ... OMIM:620107
Microphthalmia, Lenz Type
Cataract, Microcornea, Hypospadias, Abnormality of the dentition, Delayed eruption of teeth, Chor... ORPHA:568
Mend Syndrome
Aortic valve stenosis, Cataract, Asymmetry of the mouth, Broad hallux, Overlapping toe, Prominent... ORPHA:401973
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Widely spaced teeth, Anteverted nares, Micrognathia, Astigmatism, Knee flexion contract... OMIM:619694
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Bilateral triphalangeal thumbs, Short distal phalanx of finger, Anteverted na... OMIM:619356
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Micrognathia, Narrow mouth, Cryptorchidism, Talipes equinovarus, Bilater... ORPHA:251028
Verheij Syndrome
Wide nasal bridge, Short 5th finger, Broad nasal tip, Branchial cyst, Retrognathia, Long philtrum... OMIM:615583
Trisomy 18
Narrow mouth, Cryptorchidism, Bilateral single transverse palmar creases, Microphthalmia, Anal at... ORPHA:3380
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Micrognathia, Narrow mouth, Cryptorchidism, Agenesis of corp... OMIM:180849
Pseudohypoparathyroidism, Type Ia
Depressed nasal bridge, Cataract, Elevated circulating parathyroid hormone level, Delayed eruptio... OMIM:103580
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Abnormal anterior horn cell morphology, Single transverse palmar crease, Neonatal... OMIM:611890
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Thick anterior alveolar ridges, Talipes e... ORPHA:2839
Three M Syndrome 2
Short 5th finger, Depressed nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long ph... OMIM:612921
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia... ORPHA:3104
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Natal tooth, Clinodactyly, Large placenta, M... OMIM:249000
Smith-Magenis Syndrome
Toe syndactyly, Micrognathia, Open mouth, Delayed eruption of primary teeth, Short nose, Precocio... ORPHA:819
Holoprosencephaly
Chorioretinal coloboma, Encephalocele, Cryptorchidism, Anophthalmia, Arrhythmia, Microphthalmia, ... ORPHA:2162
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Micrognathia, Narrow mouth, Cryptorchidism, Abnormal metacarpal morphology, Mi... ORPHA:284160
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Promi... ORPHA:71267
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Depressed nasal bridge, Hypospadias, Decreased response to growth hormone ... OMIM:220210
Joubert Syndrome 2
Depressed nasal bridge, Postaxial foot polydactyly, Optic disc coloboma, Chorioretinal coloboma, ... OMIM:608091
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Open mouth, Everted lower lip vermilion, Large hands, High palate, Sho... ORPHA:192
Septopreoptic Holoprosencephaly
Precocious puberty, Abnormal midbrain morphology, Abnormal vertebral morphology, Hypoplasia of th... ORPHA:280195
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Abnormal calvaria morphology, Microcornea, Median cleft palate, Corneal opacity, Microphthalmia ORPHA:2432
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Anteverted nares, Turricephaly, Brachycephaly, Hydrocephalus, Corn... ORPHA:1532
Acrootoocular Syndrome
Wide nasal base, Micrognathia, Anodontia, Small thenar eminence, Short foot, Short metacarpal, Hi... ORPHA:2980
Rothmund-Thomson Syndrome, Type 2
Small hand, Micrognathia, Cryptorchidism, Telangiectasia, Talipes equinovarus, Microphthalmia, Hi... OMIM:268400
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Coronal craniosynostosis, Depressed nasal bridge, Small hand, Natal tooth, Den... OMIM:145420
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Retinal coloboma, Anteverted nares, Prominent nasal bridge, Enceph... ORPHA:220493
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Cleft ala nasi, Cryptorchidism, Anophthalmia, Agenesis of corpus call... OMIM:164180
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Keratitis, Dent... OMIM:123500
Seckel Syndrome 2
Microglossia, Prominent nose, Micrognathia, Clinodactyly of the 5th finger, Microdontia, Micropht... OMIM:606744
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology, Delayed eruption of teeth, Short 1st metacarpa... ORPHA:63442
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge... ORPHA:3472
Meckel Syndrome, Type 8
Depressed nasal ridge, Occipital encephalocele, Cleft upper lip, Microphthalmia, Encephalocele, A... OMIM:613885
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Hypoplasia of the maxilla, Abnormality of the dentition, Short distal p... ORPHA:2095
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Micrognathia, Agenesis of corpus callosum,... OMIM:614120
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality... ORPHA:163966
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Camptodactyly of finger, Intrauterine growth retardation, Prominent nose... OMIM:610756
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Microphthalmia, Iris coloboma, Cataract, Vertebra... OMIM:109400
Elsahy-Waters Syndrome
Megalocornea, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, H... OMIM:211380
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Dent... ORPHA:83451
Cousin Syndrome
Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Mic... OMIM:260660
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Hypoplasia of the radius, Hydrocephalus, Ectrodactyly ORPHA:3016
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Cleft lip, Retrognathia, Prominent fingertip pads, Sup... OMIM:620098
Kapur-Toriello Syndrome
Joint contracture of the hand, Overlapping fingers, Cryptorchidism, Bilateral single transverse p... OMIM:244300
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Wide nasal bridge, Dental crowding, Retrognathia, Thick lower lip vermilion, Anteverted nares, Mi... OMIM:618342
1Q21.1 Microdeletion Syndrome
Toe syndactyly, Broad thumb, Ankyloglossia, Cryptorchidism, Agenesis of corpus callosum, Talipes ... ORPHA:250989
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pear-shap... OMIM:190350
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Short distal phalanx of finger, Hypoplasia of the uterus, Delayed eruptio... OMIM:615866
Hallermann-Streiff Syndrome
Small hand, Natal tooth, Micrognathia, Narrow mouth, Cryptorchidism, Microphthalmia, Short foot, ... ORPHA:2108
Andersen-Tawil Syndrome
Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectiona... ORPHA:37553
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Prominent fingertip pads, Anteriorly placed anus, Long philtrum, Bulbous nos... OMIM:618494
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Cryptorchidism, Anophthalmia, Bilateral c... OMIM:610829
Meckel Syndrome, Type 10
Bifid uvula, Hypospadias, Postaxial foot polydactyly, Occipital encephalocele, Frontal bossing, P... OMIM:614175
Short Syndrome
Wide nasal bridge, Cataract, Radial deviation of finger, Dental malocclusion, Delayed eruption of... OMIM:269880
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Cataract, Microretrognathia, Cleft lip, Downturned corners of mouth, Long phil... OMIM:618571
Joubert Syndrome With Renal Defect
Anteverted nares, Prominent nasal bridge, Encephalocele, Agenesis of corpus callosum, Aganglionic... ORPHA:220497
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Type I diabetes mellitus, Abno... ORPHA:1133
Rere-Related Neurodevelopmental Syndrome
Choanal atresia, Hypospadias, Peters anomaly, Chorioretinal coloboma, Frontal bossing, Intrauteri... ORPHA:494344
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Semilobar holoprosencephaly, Coxa valga OMIM:601370
Roberts Syndrome
Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Cryptorchidism... ORPHA:3103
8P Inverted Duplication/Deletion Syndrome
Wide nasal bridge, High, narrow palate, Precocious puberty, Small hypothenar eminence, Contractur... ORPHA:96092
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Fasting hyperinsulinemia, Decreased fibular diameter, Arac... OMIM:619489
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Depressed nasal bridge, Microcornea, Broad nasal tip, Cataract, Myopic astigmatism, Long philtrum... OMIM:152950
Sotos Syndrome
High, narrow palate, Depressed nasal bridge, Narrow palate, Broad nasal tip, Long metacarpals, En... OMIM:117550
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Carious teeth, Hypoplastic iliac wing, Genu valgum, Mitral regurgitation, O... OMIM:253200
Sandestig-Stefanova Syndrome
Wide nasal bridge, Retrognathia, Clinodactyly, Trigonocephaly, Intrauterine growth retardation, M... OMIM:618804
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Secondary hyperparathyroidism, Fl... OMIM:277440
Kleefstra Syndrome 1
Hypospadias, Natal tooth, Persistence of primary teeth, Anteverted nares, Malar flattening, Protr... OMIM:610253
Hall-Riggs Syndrome
Wide nasal bridge, Platyspondyly, Abnormal epiphysis morphology, Delayed eruption of teeth, Downt... ORPHA:2107
Alkuraya-Kucinskas Syndrome
Small scrotum, Hand clenching, Clinodactyly, Overlapping toe, Micrognathia, Overlapping fingers, ... OMIM:617822
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Overlapping toe, Narrow mouth, Agenesis of corpus callosum, Hypoplastic labia majora... OMIM:123790
Codas Syndrome
Genu valgum, Cryptorchidism, Lumbar scoliosis, Metaphyseal dysplasia, Anal atresia, Rectovaginal ... OMIM:600373
Robinow Syndrome
Flared nostrils, Small scrotum, Tooth malposition, Ankyloglossia, Marked delay in eruption of per... ORPHA:97360
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Clitoral hypertrophy, Retrognathia, Furrowed tongue, Anteverted nares, Ten... OMIM:616449
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Cryptorchidism... ORPHA:818
Lambotte Syndrome
Preaxial foot polydactyly, Intrauterine growth retardation, Semilobar holoprosencephaly OMIM:245552
Limb-Mammary Syndrome
Bifid uvula, Absent nipple, Cleft lip, Toe syndactyly, Breast aplasia, Oligodactyly, Malar flatte... ORPHA:69085
Fanconi Anemia, Complementation Group S
Dental malocclusion, Clinodactyly, Underdeveloped nasal alae, Thick upper lip vermilion, Macrodon... OMIM:617883
Ohdo Syndrome, X-Linked
Small scrotum, Clinodactyly, Overlapping toe, Micrognathia, Narrow mouth, Cryptorchidism, Long th... OMIM:300895
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Craniometaphyseal Dysplasia, Autosomal Recessive
Wide nasal bridge, Depressed nasal ridge, Mandibular prognathia, Flared metaphysis, Facial hypero... OMIM:218400
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,... ORPHA:2972
Frontofacionasal Dysplasia
Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, M... ORPHA:1791
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Clinodactyly, Bulbous nose, Intrauterine growth retardation, Anteverted nares,... OMIM:613604
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop... OMIM:252100
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tooth malposition, Mandibular prognathia, Retrognathia, Clinodactyly, Tricuspid regurgitation, Pr... OMIM:619576
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Micrognathia, Absent gallbladder, Neonatal death, Microphthalmia, Anal ... OMIM:617925
Orofaciodigital Syndrome Xiv
Natal tooth, Occipital encephalocele, Micrognathia, Cryptorchidism, Molar tooth sign on MRI, Holo... OMIM:615948
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Momo Syndrome
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Chorioretinal coloboma, Long phi... ORPHA:2563
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Retrognathia, Skull asymmetry, Umbilical hernia, Hypertrophic cardiomyopathy, Intrau... OMIM:612938
Slc35A2-Cdg
Precocious puberty, Osteopenia, Abnormal midbrain morphology, Aplasia/hypoplasia involving bones ... ORPHA:356961
Trisomy 8Q
Wide nasal bridge, Non-midline cleft of the upper lip, Camptodactyly of finger, Myelomeningocele,... ORPHA:1752
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Ectopia lentis, Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Sho... ORPHA:2325
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Clinodactyly, Small placenta, Hypogonadism, Intrauterine growth retard... ORPHA:73272
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Postaxial foot polydactyly, Molar tooth sign on MRI, Epispadias, Accesso... ORPHA:434179
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Multiple Epiphyseal Dysplasia, Lowry Type
Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Broad nasal tip, Small epiphys... ORPHA:166016
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Talipes equinovarus, Joint contracture of the hand OMIM:611067
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Cataract, Joint contracture of the hand, Delayed eruption of teeth, Frontal bo... OMIM:247200
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Micrognathia, ... ORPHA:1427
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Everted lower lip vermilion, Microphthalmia, Short nose, Pierre-Robin sequence, A... ORPHA:364577
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly, Tooth agenesis, Abnormality of the wrist, Micrognathia, Abnormal femur morphology,... ORPHA:2063
Microgastria-Limb Reduction Defect Syndrome
Elbow dislocation, Esophagitis, Anophthalmia, Perineal fistula, Agenesis of corpus callosum, Abno... ORPHA:2538
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Carious teeth, Natal tooth, Branchial cyst, Clinodactyly, Ankyloglossia, Micrognathia, Aplasia of... OMIM:620186
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Cryptorchidism, Anophthalmia, Contracture of the proximal ... OMIM:300166
Tetrasomy 12P
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Iniencephaly
Rhizomelia, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Encephalocele, Syringomyelia... ORPHA:63259
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Delayed puberty, Brachydactyly, Microphthalmia OMIM:233270
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Astigmatism, Hyperplasia of the premaxilla, Adva... OMIM:614753
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, Carious teeth, Hypoplasia of the maxilla, Delayed eruption of teeth... ORPHA:50814
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Lateral ventricle dilatation, Micrognathia, Narrow mouth, ... OMIM:611209
Mccune-Albright Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia... ORPHA:562
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Wide nasal bridge, Cataract, Conical tooth, Dental malocclusion, Clinodactyly, Sandal gap, Ectopi... OMIM:618727
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Choanal atresia, Platyspondyly, Keratitis, Ectrodactyly, Camptodac... ORPHA:2273
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Micrognathia, Narrow mouth, Encephalocele, Cryptorchidism, Micropht... ORPHA:2166
Arthrogryposis, Distal, Type 5D
Micrognathia, Open mouth, Narrow mouth, Limited elbow movement, Talipes equinovarus, Hypoplastic ... OMIM:615065
Jacobsen Syndrome
Chorioretinal coloboma, Micrognathia, Cryptorchidism, Microphthalmia, Holoprosencephaly, Hypospad... OMIM:147791
Gapo Syndrome
High, narrow palate, Depressed nasal bridge, Keratoconus, Plagiocephaly, Scoliosis, Eruption fail... OMIM:230740
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Cataract, Bifid uvula, Failure of eruption of permanent teeth, Tooth malposition, Hyposm... ORPHA:2250
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Kyphosis, Short mandibular rami OMIM:141300
Pycnodysostosis
Narrow palate, Aplastic clavicle, Carious teeth, Frontal bossing, Prominent nose, Persistence of ... OMIM:265800
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Proximal placement of thumb OMIM:615433
Chromosome 8Q21.11 Deletion Syndrome
Wide nasal bridge, Cataract, Downturned corners of mouth, Underdeveloped nasal alae, Micrognathia... OMIM:614230
Holoprosencephaly 11
Holoprosencephaly OMIM:614226
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Brachydactyly, Clinodactyly of the 5th finger, Holoprosencephaly,... ORPHA:2163
Pseudohypoparathyroidism Type 1B
Depressed nasal bridge, Cataract, Pituitary resistance to thyroid hormone, Elevated circulating p... ORPHA:94089
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Hypoplastic ilia, Delayed eruption of teeth, Long philtrum, ... ORPHA:85201
4H Leukodystrophy
Cataract, Abnormality of the dentition, Delayed eruption of teeth, Decreased response to growth h... ORPHA:289494
Pseudohypoparathyroidism, Type Ic
Depressed nasal bridge, Cataract, Elevated circulating parathyroid hormone level, Delayed eruptio... OMIM:612462
Triploidy
Finger syndactyly, Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Supernumerary nip... ORPHA:397715
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Cockayne Syndrome Type 2
Male hypogonadism, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of th... ORPHA:90322
Kleefstra Syndrome
Limitation of joint mobility, Supernumerary nipple, Cryptorchidism, Agenesis of corpus callosum, ... ORPHA:261494
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Microcornea, Edema, Long philtrum, Umbilical hernia, Congestive heart failure, Mic... ORPHA:2505
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Telangiectasia of the skin, Abnorma... ORPHA:3019
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Multiple non-erupting ... OMIM:620277
Oculodentodigital Dysplasia
Carious teeth, Clinodactyly, Joint contracture of the 5th finger, Arrhythmia, Microphthalmia, Hig... OMIM:164200
Cornelia De Lange Syndrome 1
Micrognathia, Cryptorchidism, Hypoplastic labia majora, High palate, Dislocated radial head, Hypo... OMIM:122470
Raine Syndrome
Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow mouth, Protrud... OMIM:259775
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Decreased thalamic volume, Abnormality iris morphology, Occipital encephalocele, Cardio... ORPHA:370959
Xk Aprosencephaly Syndrome
Narrow mouth, Microphthalmia, Abnormal morphology of the radius, Polyhydramnios, Abnormal nostril... ORPHA:3469
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Retrognathia, Elbow dislocation, Small epiphyses, Joint hypermobi... OMIM:620269
Arthrogryposis, Distal, Type 3
Overlapping toe, Micrognathia, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovarus, ... OMIM:114300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Cry... OMIM:609945
Witteveen-Kolk Syndrome
Flared nostrils, Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Male ureth... OMIM:613406
Joubert Syndrome 10
Wide nasal bridge, Postaxial foot polydactyly, Deep philtrum, Brachydactyly, Molar tooth sign on ... OMIM:300804
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Hypospadias, Abnormality of frontal sinus, Short thumb, Underdeveloped nasal... ORPHA:436003
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:289548
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... ORPHA:84
Trisomy 9P
Dental crowding, Downturned corners of mouth, Kyphosis, Impacted tooth, Abnormal pupil morphology... ORPHA:236
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short toe, Short finger, Intrauterine growth retardation, Bowing of the arm... OMIM:269860
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:168558
Chromosome 13Q14 Deletion Syndrome
Chorioretinal coloboma, Supernumerary nipple, Overlapping toe, Micrognathia, Cryptorchidism, Agen... OMIM:613884
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bifid nasal tip, Hypospadias, Ankyloglossia, Unilateral microphthalmos, Malar flattening, Bilater... OMIM:618874
Braddock-Carey Syndrome 2
Retrognathia, Clinodactyly, Bulbous nose, Microphthalmia, Wide mouth, Cleft palate, Pierre-Robin ... OMIM:619981
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Focal Dermal Hypoplasia
Toe syndactyly, Chorioretinal coloboma, Supernumerary nipple, Cryptorchidism, Anophthalmia, Agene... OMIM:305600
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Abnormality of the dentition, Mesomelia, Broad nasal tip, Broad thumb, Clinoda... OMIM:618529
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Holoprosencephaly, Abnormal morphology of the radius ORPHA:2165
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Broad columella, Retrognathia, Lateral ventricle dilatation, Thick nasal alae, Bulbous nose, Depr... ORPHA:293725
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Downturned corners of mouth, Bilateral cryptorchidism, Tricuspid regurgitation, P... OMIM:618652
Cole-Carpenter Syndrome
Kyphosis, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental ename... ORPHA:2050
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Tooth agenesis, Abnormality of the sense ... ORPHA:1135
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly, Ambiguous genitalia, Coloboma, Molar tooth sign on MRI, Microp... OMIM:614464
Baraitser-Winter Syndrome 2
Retrognathia, Long philtrum, Trigonocephaly, Agenesis of corpus callosum, Thin upper lip vermilio... OMIM:614583
Adams-Oliver Syndrome 2
Depressed nasal bridge, Lateral ventricle dilatation, Bulbous nose, Micrognathia, Oligohydramnios... OMIM:614219
Au-Kline Syndrome
Supernumerary nipple, Overlapping toe, Open mouth, Cryptorchidism, Thoracolumbar scoliosis, Lipom... OMIM:616580
Fryns Syndrome
Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Microphthalmia, Anal atresia, High pal... ORPHA:2059
Trichothiodystrophy 3, Photosensitive
Cataract, Carious teeth, Natal tooth, Meckel diverticulum, Bilateral cryptorchidism, Trigonocepha... OMIM:616395
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Cryptorchidism, Agenesis of corpus callosum, Elb... ORPHA:2658
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus... OMIM:224300
Joubert Syndrome With Oculorenal Defect
Chorioretinal coloboma, Anteverted nares, Prominent nasal bridge, Encephalocele, Aganglionic mega... ORPHA:2318
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi... ORPHA:2751
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Carey-Fineman-Ziter Syndrome 1
Micrognathia, Cryptorchidism, Talipes equinovarus, High palate, Pierre-Robin sequence, Cataract, ... OMIM:254940
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Cry... ORPHA:139471
Fetal Alcohol Syndrome
Intrauterine growth retardation, Joint stiffness, Micrognathia, Anteverted nares, Microdontia, Th... ORPHA:1915
Dubowitz Syndrome
Carious teeth, Velopharyngeal insufficiency, Megalocornea, Micrognathia, Cryptorchidism, Micropht... OMIM:223370
Momo Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Retinal colobom... OMIM:157980
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Underdeveloped nasal alae, Anteriorly pl... ORPHA:2315
Phocomelia, Schinzel Type
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,... ORPHA:2879
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Retrognathia, Chorioretinal coloboma, Thick nasal alae, Abnormal brainstem m... ORPHA:163961
Zimmermann-Laband Syndrome 2
Bifid nasal tip, Underdeveloped nasal alae, Gingival overgrowth, Deep philtrum, Thick vermilion b... OMIM:616455
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Open mouth, Cryptorchidism, Narrow mouth, High, narrow palate, Narrow nasal bridge, Dysplastic co... OMIM:300967
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Abnormality of the dentition... ORPHA:178303
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Clitoral hypertrophy, Abnormally large globe, Natal tooth, Micrognathia... OMIM:614592
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Everted lower lip vermilion, Micr... OMIM:608670
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, Talipe... OMIM:300373
Fontaine Progeroid Syndrome
Small scrotum, Micrognathia, Narrow mouth, Protruding tongue, Cryptorchidism, Neonatal death, Hyp... OMIM:612289
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, Agenesis of corpus callosum, High palat... OMIM:311200
Frontofacionasal Dysplasia
Cranium bifidum occultum, Cataract, Microcornea, Hypoplasia of the frontal bone, Bifid uvula, Und... OMIM:229400
Monosomy 9Q22.3
Cataract, Palmar pits, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Trigonocephaly... ORPHA:77301
Nance-Horan Syndrome
Cataract, Microcornea, Abnormality of the dentition, Prominent nose, Prominent nasal bridge, Micr... ORPHA:627
Helsmoortel-Van Der Aa Syndrome
Posterior plagiocephaly, Carious teeth, Small hand, Lateral ventricle dilatation, Ankyloglossia, ... OMIM:615873
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Aplastic clavicle, Micromelia, Retinal coloboma, Hamartoma of tongue, Hyp... OMIM:616546
Stromme Syndrome
Wide nasal bridge, Cataract, Microcornea, Peters anomaly, Preaxial polydactyly, Intestinal malrot... OMIM:243605
Ring Chromosome 10 Syndrome
Wide nasal bridge, Sandal gap, Long philtrum, Intrauterine growth retardation, Micrognathia, Agan... ORPHA:1438
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb... OMIM:114290
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Biemond Syndrome Type 2
Preaxial polydactyly, Hypogonadism, Hypogonadotropic hypogonadism, Coloboma, Delayed puberty, Hyd... ORPHA:141333
Tetramelic Monodactyly
Hand monodactyly, Split hand, Split foot, Foot monodactyly OMIM:187510
Charge Syndrome
Chorioretinal coloboma, Abnormal tibia morphology, Narrow mouth, Cryptorchidism, Anophthalmia, Mi... ORPHA:138
Microphthalmia, Isolated 4
Postaxial polydactyly, Absent testis, Coloboma, Microphthalmia OMIM:613094
Heart And Brain Malformation Syndrome
Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Cleft lip, Hand clenching, Campto... OMIM:616920
Intellectual Developmental Disorder, Autosomal Dominant 73
Premature adrenarche, Ankyloglossia, Cleft soft palate, Cryptorchidism, Bilateral single transver... OMIM:620450
Zimmermann-Laband Syndrome 1
High palate, Gingival fibromatosis, Hyperextensibility of the finger joints, Cataract, Broad nasa... OMIM:135500
Marshall-Smith Syndrome
Cryptorchidism, Irregular dentition, Prominence of the premaxilla, Agenesis of corpus callosum, P... OMIM:602535
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Short nose, Syndactyly, Cleft lip, Downt... OMIM:616894
Rothmund-Thomson Syndrome Type 2
Carious teeth, Cryptorchidism, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper ... ORPHA:221016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Megalocornea, Micrognathia, Cryptorchidism, Agenesis of corpus callosum,... OMIM:236670
Myhre Syndrome
Aortic valve stenosis, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overla... OMIM:139210
Meckel Syndrome
Postaxial foot polydactyly, Micrognathia, Encephalocele, Cryptorchidism, Anophthalmia, Bowing of ... ORPHA:564
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Op... ORPHA:1507
Adnp Syndrome
Broad thumb, Cryptorchidism, Abnormal finger morphology, Iris coloboma, Plagiocephaly, Trigonocep... ORPHA:404448
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Depressed nasal bridge, Atrial flutter, Contractures of the large joints, ... ORPHA:324410
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Retrognathia, Postaxial foot polydactyly, Tricuspid r... OMIM:619879
Autosomal Dominant Robinow Syndrome
Elbow dislocation, Finger syndactyly, Open bite, Micrognathia, Cryptorchidism, Anodontia, Hypopla... ORPHA:3107
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Mandibular osteomyelitis, Carious teeth, Cranial hyperostosis, Osteomyelit... OMIM:259710
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the pons, Micrognathia, Cryptorchidism, Microphthalmia, High palate, Hypospadias, D... OMIM:616975
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Lobar holoprosencephaly,... OMIM:614701
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Cleft upper lip, Decreased response to growth hormone stimulation test,... OMIM:147250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Cardiomyopathy, Hypoplasia of the brainstem, Hydrocephalus, D... OMIM:613155
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Depressed nasal ridge, Retrognathia, Long philtrum, Patellar hypoplasia, Anteverted nares, Gingiv... ORPHA:464288
Neu-Laxova Syndrome
Osteomalacia, Micrognathia, Everted lower lip vermilion, Large hands, Osteopenia, Depressed nasal... ORPHA:2671
Monosomy 9P
Limitation of joint mobility, Micrognathia, Narrow mouth, Cryptorchidism, Bilateral single transv... ORPHA:261112
Lenz-Majewski Hyperostotic Dwarfism
Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Agenesis of c... OMIM:151050
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Cataract, Broad hallux, Long philtrum, Lateral ventricle dilatation, Bulb... OMIM:614105
Traboulsi Syndrome
Arachnodactyly, Microphthalmia, High palate, Wide nose, Cataract, Anterior synechiae of the anter... OMIM:601552
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Metaphyseal irregularity, Rickets... OMIM:264700
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Agenesis of corpus callosum, ... ORPHA:508498
Cockayne Syndrome B
Carious teeth, Limitation of joint mobility, Square pelvis bone, Hypoplastic iliac wing, Cryptorc... OMIM:133540
Stuve-Wiedemann Syndrome 1
Wide nasal base, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, ... OMIM:601559
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Scoliosis, D... OMIM:112350
Branchiooculofacial Syndrome
Supernumerary nipple, Ectopic thymus tissue, Micrognathia, Cryptorchidism, Anophthalmia, Micropht... OMIM:113620
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Orofacial cleft, Coloboma, Hydrocephalus, Ocular anterior segment dysgen... ORPHA:324416
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Cerebral ischemia, ... ORPHA:54595
Meckel Syndrome 13
Flexion contracture, Micrognathia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Focal Dermal Hypoplasia
Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Open bite, Microphthalmia, Iris colobo... ORPHA:2092
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micrognathia, Cryptorchidism, Talipes equinovarus, Large hands, High palate, Short foot, Hypoplas... OMIM:300534
Warburg Micro Syndrome 4
Small scrotum, Microcornea, Long philtrum, Decreased testicular size, Anteverted nares, Prominent... OMIM:615663
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Plagiocephaly, Clinodactyly, Frontal bossing, Bulbous nose, Open mouth, C... OMIM:616789
De Barsy Syndrome
Osteopenia, Cataract, Congenital hip dislocation, Delayed eruption of teeth, Umbilical hernia, In... ORPHA:2962
Doors Syndrome
Wide nasal base, Short lingual frenulum, Adrenal hyperplasia, Open mouth, Aplasia/Hypoplasia of t... ORPHA:79500
Vacterl With Hydrocephalus
Microcornea, Retrognathia, Abnormal form of the vertebral bodies, Intrauterine growth retardation... ORPHA:3412
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... ORPHA:352665
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Lumbar kyphoscoli... OMIM:156550
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Mosaic Variegated Aneuploidy Syndrome
Micrognathia, Stomach cancer, Microphthalmia, Holoprosencephaly, Duodenal atresia, Wide nose, Aor... ORPHA:1052
Melnick-Needles Syndrome
Craniofacial hyperostosis, Tooth malposition, Short distal phalanx of finger, Anisospondyly, Dela... ORPHA:2484
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... OMIM:300963
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Osteopenia, Depressed nasal bridge, Cataract, Abnormal pelvic girdle bone morp... OMIM:222765
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Anteverted nares, Micrognathia, Type II diabetes mellitus, Bilateral ... ORPHA:3191
Stevenson-Carey Syndrome
Joint contracture of the hand, Downturned corners of mouth, Underdeveloped nasal alae, Anteverted... OMIM:611961
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Clinodactyly of the 5th fin... OMIM:167730
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Familial Osteodysplasia, Anderson Type
Tooth malposition, Carious teeth, Elbow dislocation, Aplasia/hypoplasia of the femur, Long nose, ... ORPHA:2769
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Recurrent upper respiratory tract infections, Hypoplasia of the maxilla, Bilateral micr... ORPHA:2399
Restrictive Dermopathy 1
Natal tooth, Micrognathia, Narrow mouth, Neonatal death, Hypospadias, Choanal atresia, Hydropic p... OMIM:275210
Cleidocranial Dysplasia 2
Osteopenia, Hypoplasia of the maxilla, Plagiocephaly, Broad thumb, Short distal phalanx of finger... OMIM:620099
Microphthalmia/Coloboma 4
Microcornea, Coloboma, Microphthalmia OMIM:251505
Joubert Syndrome 1
Plagiocephaly, Postaxial foot polydactyly, Clinodactyly, Optic disc coloboma, Chorioretinal colob... OMIM:213300
Cerebrooculofacioskeletal Syndrome 4
Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Disloca... OMIM:610758
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Bowing of the long bones, Hydrocephalus, Molar to... OMIM:611134
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Short distal phalanx of finger, Short toe, Abnormal mandible morphology, Cam... ORPHA:3201
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Anosmia, Cataract, Dental malocclusion, Cleft lip, Microphthalmia, Cryptorchidis... OMIM:603457
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Wide nasal bridge, Cranium bifidum occultum, Cataract, Hypoplasia of the frontal bone, Hypoplasia... ORPHA:306542
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Insulin-resistant diabetes mellitus, High palate, Wide nose, Precocious pub... ORPHA:769
Barber-Say Syndrome
Velopharyngeal insufficiency, Micrognathia, Cryptorchidism, Talipes equinovarus, Hypoplastic labi... OMIM:209885
Atelis Syndrome 2
Downturned corners of mouth, Diastema, Thick lower lip vermilion, Clinodactyly, Bulbous nose, Pro... OMIM:620185
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Joint hypermobility, Polydactyly, Smooth philtrum, Hydrocephalus, Microph... OMIM:602501
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Clinodactyly, Hyperplasia of the maxilla, Narrow naris, Micrognathia, Enlar... OMIM:268300
Pseudohypoparathyroidism Type 1A
Short metacarpal, Cataract, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd me... ORPHA:79443
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Delayed eruption of teeth, Congenital hypothyroidism, Increased T3/T4... OMIM:614450
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, High palate, Short dista... OMIM:620662
Wrinkly Skin Syndrome
Carious teeth, Cryptorchidism, Talipes equinovarus, High palate, Osteopenia, Wide nasal bridge, D... OMIM:278250
Marbach-Rustad Progeroid Syndrome
Eruption failure, Intrauterine growth retardation, Micrognathia, Narrow mouth, Right bundle branc... OMIM:619322
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Incontinentia Pigmenti
Finger syndactyly, Supernumerary nipple, Abnormal hand morphology, Microphthalmia, Cataract, Hypo... ORPHA:464
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Partial duplication of the distal phalanx of the 3rd finger, Toe syn... OMIM:101400
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Abnormality of the dentition, Conical tooth, Small hand, Overlapping fingers, Soli... ORPHA:952
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Deep palmar crease, Coloboma, Microphthalmia, Cle... OMIM:600251
Cerebellofaciodental Syndrome
Cataract, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Hypoplasia of ... OMIM:616202
Osteogenesis Imperfecta
Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, Genu valgum,... ORPHA:666
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Carpal synostosis, Talipes equinovarus, Tarsal synostosis, Short metacarpal... OMIM:272460
Schinzel-Giedion Syndrome
Overlapping toe, Micrognathia, Streak ovary, Overlapping fingers, Radioulnar synostosis, Abnormal... ORPHA:798
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protruding tongue, B... ORPHA:50945
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Micrognathia, Radiou... OMIM:154400
Coffin-Lowry Syndrome
Thick nasal septum, Open mouth, Mitral regurgitation, Everted lower lip vermilion, High palate, S... OMIM:303600
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal... OMIM:300863
Pitt-Hopkins Syndrome
Tooth malposition, Small hand, Triangular nasal tip, Supernumerary nipple, Overhanging nasal tip,... ORPHA:2896
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft upper lip, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Cleft palate OMIM:120433
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Arthrogryposis multiplex congenita, Abnormal mandible morphology OMIM:217150
Neu-Laxova Syndrome 1
Joint