Gene Summary

Name:
3-hydroxyanthranilate 3,4-dioxygenase
Synonyms:
3HAO,  0610012J07Rik,  3-HAOxase,  0610007K21Rik,  3-HAO

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
increased bone mineral content Haaotm2b(KOMP)Mbp HOM Early adult 5.86×10-05
increased circulating glucose level Haaotm2b(KOMP)Mbp HOM Early adult 2.66×10-08

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 575)
aorta 0.0%
blood 0.0%
bone marrow 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cecum 5.88% (22 of 374)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
chest bone Unavailable
colon 15.44% (21 of 136)
diaphragm 0.0%
duodenum 2.99% (4 of 134)
epididymis 13.79% (20 of 145)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.73% (1 of 137)
heart 0.35% (2 of 571)
hindlimb 0.0%
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
ileum 14.71% (20 of 136)
jejunum 8.82% (12 of 136)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.32% (1 of 312)
midbrain 0.0%
olfactory lobe 0.17% (1 of 579)
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
stomach pyloric region 0.0%
striatum 0.52% (3 of 582)
sublingual gland 0.0%
submandibular gland 1.43% (2 of 140)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
tongue 3.62% (5 of 138)
trachea 0.34% (2 of 589)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vagina 0.0%
vas deferens 4.45% (17 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

10 Images

Adult LacZ

LacZ Images Section

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Butterfly vertebrae, Hypoplastic left heart, Bifid uvula, Atrial septal defect... OMIM:617660

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Brachydactyly, Type C
Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ... OMIM:113100
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... OMIM:174500
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormality of the vertebral column, Abnormal hip bone morphology, Syndactyly, Abnor... ORPHA:294975
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Arthrogryposis, Distal, Type 1C
Camptodactyly of finger, Scoliosis, Bifid uvula, Metacarpophalangeal joint contracture, Rocker bo... OMIM:619110
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Camptodactyly, Hip dislocation, Tapered finger, Brachydactyly, Narr... OMIM:618435
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Chromosome 2Q31.1 Duplication Syndrome
Short thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Talipes equinovarus, Absent thumb OMIM:613681
Polydactyly, Postaxial, Type A1
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... OMIM:174200
Symphalangism With Multiple Anomalies Of Hands And Feet
Short distal phalanx of hallux, Small thenar eminence, Aplasia/Hypoplasia of the distal phalanx o... ORPHA:3246
Syndactyly Type 1
Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Syndactyly, Type Iii
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger OMIM:186100
Brachydactyly, Type A1, C
Short middle phalanx of the 4th finger, Short distal phalanx of finger, Bilateral talipes equinov... OMIM:615072
Brachydactyly Type A4
Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd finger, Symphalangism aff... ORPHA:93394
Epiphyseal Dysplasia, Multiple, 4
Scoliosis, Hip dysplasia, Short metacarpal, Limited elbow flexion, Double-layered patella, Hypopl... OMIM:226900
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Hip dislocation, Hip dysplasia, Abnormal heart morphology, Cleft palate, Kyphoscoliosi... ORPHA:93359
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Hip dysplasia, Coxa valga, Talipes equinovarus, Acetabular dysplasia, Genu valgum OMIM:613618
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Abnormality of the upper limb, Bilateral single ... ORPHA:1891
Diastrophic Dysplasia
Short finger, Scoliosis, Lumbar hyperlordosis, Ulnar deviation of finger, Flattened epiphysis, Ir... OMIM:222600
Arthrogryposis, Distal, Type 2B3
Camptodactyly, Scoliosis, Hallux valgus, Ulnar deviation of the hand, Narrow mouth, Adducted thum... OMIM:618436
Aase-Smith Syndrome
Camptodactyly of finger, Scoliosis, Abnormal hip bone morphology, Cleft palate, Slender finger, T... ORPHA:916
Crossed Polysyndactyly
Abnormality of the philtrum, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of pe... ORPHA:2935
Fructose And Galactose Intolerance
Fructose intolerance, Galactose intolerance OMIM:229500
Gordon Syndrome
High palate, Camptodactyly of finger, Scoliosis, Finger syndactyly, Cleft palate, Talipes, Clinod... ORPHA:376
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Cleft palate, Tapered finger, Glossoptosis, Pierre-Robin sequence... OMIM:311895
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Abnormal form of the vertebral bodies, Abnormal metacarpal morpholo... ORPHA:3104
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Arthrogryposis, Distal, Type 7
Hip dislocation, Deep philtrum, Metatarsus adductus, Hammertoe, Talipes equinovarus, Cutaneous sy... OMIM:158300
Multiple Synostoses Syndrome 3
Metatarsal synostosis, Hallux varus, Cleft palate, Broad thumb, Humeroradial synostosis, Cubitus ... OMIM:612961
Brachydactyly Type A1
Scoliosis, Short thumb, Broad metacarpals, Distal symphalangism of hands, Short middle phalanx of... ORPHA:93388
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the philtrum, Scoliosis, Abnormality of the dentition, Abnormality of the elbow, F... ORPHA:3268
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Talipes equinovarus, Autoamputation of digits, Congenital palmoplantar hyperkeratosis OMIM:620009
Arthrogryposis, Distal, Type 1B
Camptodactyly, Rocker bottom foot, Foot joint contracture, Talipes equinovarus, Joint contracture... OMIM:614335
Atelosteogenesis, Type Ii
Scoliosis, Lumbar hyperlordosis, Dumbbell-shaped femur, Short greater sciatic notch, Short neck, ... OMIM:256050
Acropectorovertebral Dysplasia
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... OMIM:102510
Split-Hand/Foot Malformation 1
Foot oligodactyly, Ectrodactyly, Syndactyly, Cleft palate, Broad hallux, Clinodactyly, Triphalang... OMIM:183600
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Atrial septal defect, Aplasia/Hypoplasia of the fibula, Short 5th finger,... ORPHA:52056
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Phalangeal dislocation, Talipes equinovarus, Elbow dislocation ORPHA:85174
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Scoliosis, Hip dislocation, Proximal placement of thumb, Thoracic kyphoscoliosis, Metaphyseal irr... OMIM:613330
Syndactyly Type 5
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... ORPHA:93406
Holzgreve Syndrome
Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip, Renal hypoplasia OMIM:236110
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Hypoplastic left heart, Ureteral atresia, Unilateral renal agenesis, Sacral dim... OMIM:618845
Santos Syndrome
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... OMIM:613005
Sprengel Deformity
Short neck, Cleft palate, Shoulder muscle hypoplasia, Abnormal shoulder morphology, Abnormality o... ORPHA:3181
Atelosteogenesis, Type Iii
Elbow dislocation, Scoliosis, Tombstone-shaped proximal phalanges, Short neck, Widened distal pha... OMIM:108721
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Distal lower limb muscle weakness, Knee flexion contracture, Proximal lower limb amyot... OMIM:600175
Brachydactyly, Type B1
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Micropen... OMIM:113000
Wahab Syndrome
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... OMIM:615170
Neuropathy, Hereditary Motor, With Myopathic Features
Distal lower limb muscle weakness, Pes cavus, Scapular winging, Proximal muscle weakness in upper... OMIM:619216
Disorganization, Mouse, Homolog Of
Hand polydactyly, Hip dislocation, Sacral meningocele, Cleft palate, Limb duplication, Cleft uppe... OMIM:223200
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Hip dysplasia, Talipes equinovarus ORPHA:238578
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Moderate Multiminicore Disease With Hand Involvement
Hyporeflexia of upper limbs, Intrinsic hand muscle atrophy, Knee dislocation, Talipes equinovarus... ORPHA:178145
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Short palm, Small hand, Talipes equinovarus, Hypoplasia of the odontoid process, I... ORPHA:85172
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Pes cavus, Kyphosis, Upper limb amyotrophy, Talipes equinovarus OMIM:617087
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly OMIM:607539
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Camptodactyly, 2-3 finger syndactyly, 3-4 finger syndactyly, Selective too... OMIM:225280
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Dermatoglyphic ridges abnormal, Camptodactyly, Small thenar eminence, Spina bifida, Small hypothe... OMIM:211960
Joubert Syndrome 18
Camptodactyly, Ventricular septal defect, Postaxial polydactyly, Horseshoe kidney, Trident pelvis... OMIM:614815
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger ORPHA:71289
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Hip dislocation, Kyphosis, Small hand, Talipes equinovarus, Short foot OMIM:300434
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Brachydactyly Type A7
Medially deviated second toe, Broad distal phalanx of the thumb, Hallux valgus, Short middle phal... ORPHA:93397
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Whistling Face Syndrome, Recessive Form
Camptodactyly, High palate, Ulnar deviation of finger, Short neck, Knee flexion contracture, Shou... OMIM:277720
Hyperekplexia 4
Camptodactyly, High palate, Umbilical hernia, Adducted thumb, Talipes equinovarus, Kyphoscoliosis OMIM:618011
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Scoliosis, Absent phalangeal crease, Short neck, Cleft palate, Talipes ... OMIM:618469
Brachydactyly, Type A2
Medially deviated second toe, Hallux valgus, Aplasia/Hypoplasia of the middle phalanx of the 2nd ... OMIM:112600
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Syndactyly, Cutaneous finger syndacty... OMIM:600384
Arthrogryposis, Distal, Type 3
Down-sloping shoulders, Camptodactyly of finger, Scoliosis, Lumbar hyperlordosis, Camptodactyly o... OMIM:114300
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... OMIM:605289
Arthrogryposis, Distal, Type 11
Camptodactyly, Limited pronation/supination of forearm, Calcaneovalgus deformity, Rocker bottom f... OMIM:620019
Camptodactyly Syndrome, Guadalajara Type 2
Camptodactyly of finger, Hip dislocation, Patellar hypoplasia, Short 2nd toe, Short 5th toe, Shor... ORPHA:1326
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Short metatars... ORPHA:93307
Charcot-Marie-Tooth Disease, Type 4H
Scoliosis, Small thenar eminence, Distal lower limb muscle weakness, Pes cavus, Small hypothenar ... OMIM:609311
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Abnormal glycosylation OMIM:615596
Desbuquois Dysplasia 1
Scoliosis, Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short me... OMIM:251450
Spastic Paraplegia 33, Autosomal Dominant
Ankle clonus, Talipes equinovarus OMIM:610244
Erythema Of Acral Regions
Abnormality of the dentition, Talipes equinovarus OMIM:227000
Split hand/foot malformation 1 (SHFM1)
Cleft palate, Toe syndactyly, 2-3 toe syndactyly, Median cleft lip, Cutaneous finger syndactyly, ... DECIPHER:46
Liebenberg Syndrome
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... OMIM:186550
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Hip dysplasia, Distal lower limb muscle weakness, Pes cavus, Knee flexion contracture,... OMIM:615290
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Talipes equinovarus ORPHA:85338
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Type E brachydactyly, Limited elbow extension, Hip dysplasia, Ovoid vertebral bodies, Abnormal hi... ORPHA:1856
Arthrogryposis, Distal, Type 2E
Narrow mouth, Foot joint contracture, Joint contracture of the hand, Talipes equinovarus OMIM:121070
Ventriculomegaly And Arthrogryposis
Hand clenching, Ulnar deviation of the wrist, Talipes equinovarus OMIM:619501
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... ORPHA:157801
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brac... OMIM:610140
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Kyphosis, Talipes equinovarus ORPHA:85288
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Meckel Syndrome, Type 8
Encephalocele, Polycystic kidney dysplasia, Polydactyly, Short neck, Enlarged kidney, Occipital e... OMIM:613885
Cerebrooculofacioskeletal Syndrome 3
Cleft palate, Rocker bottom foot, Talipes equinovarus OMIM:616570
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Classic Homocystinuria
High palate, Scoliosis, Kyphosis, Esophageal varix, Dental crowding, Abnormality of amino acid me... ORPHA:394
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Catel-Manzke Syndrome
Camptodactyly of finger, Scoliosis, Atrial septal defect, Ventricular septal defect, Abnormal epi... ORPHA:1388
Polydactyly, Preaxial Iv
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... OMIM:174700
Masa Syndrome
Pes cavus, Kyphosis, Adducted thumb, Talipes equinovarus, Hyperlordosis OMIM:303350
Weaver Syndrome
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Pes cavus, Deep philtrum, Fin... ORPHA:3447
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal sacrum morphology, Scoliosis, Abnormality of fibula morphol... ORPHA:1988
Pseudodiastrophic Dysplasia
Camptodactyly, Scoliosis, Lumbar hyperlordosis, Short neck, Tongue-like lumbar vertebral deformit... OMIM:264180
Braddock-Carey Syndrome 1
Clinodactyly, Camptodactyly, Thick vermilion border, Anteriorly placed anus, Ventricular septal d... OMIM:619980
Carpenter Syndrome
Polydactyly, Umbilical hernia, Finger syndactyly, Syndactyly, Preaxial foot polydactyly, Toe synd... ORPHA:65759
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Pes cavus, Cardiomyopathy, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Dislo... OMIM:300280
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... ORPHA:1892
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Knee flexion contracture, Tongue atrophy, Proximal muscle weakness in upper limbs, Upper limb amy... ORPHA:496689
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Thoracic kyphosis, Cleft lip, Arachnodactyly, Cleft palate, Long toe, Pes planus, Large hands OMIM:300263
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Cutaneous syndactyly, Delayed epiphyseal ossification, Triangular mouth, C... ORPHA:166024
Arthrogryposis, Distal, Type 1A
Camptodactyly, Scoliosis, Congenital hip dislocation, Calcaneovalgus deformity, Overlapping toe, ... OMIM:108120
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... OMIM:610713
Arthrogryposis, Distal, Type 2B1
Ulnar deviation of the wrist, Camptodactyly of finger, Scoliosis, Absent phalangeal crease, High ... OMIM:601680
Aspartylglucosaminuria
Macroglossia, Scoliosis, Abnormality of the dentition, Malabsorption, Umbilical hernia, Aspartylg... ORPHA:93
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the dentition, Abnormality of fibula morphology, Abnormal metaphysis morphology, A... ORPHA:1837
Kury-Isidor Syndrome
Hydronephrosis, High palate, Scoliosis, Hip dysplasia, Ventricular septal defect, Short neck, Pro... OMIM:619762
Microphthalmia With Limb Anomalies
Hip dislocation, Metatarsal synostosis, Cleft palate, Toe syndactyly, Single transverse palmar cr... OMIM:206920
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis, Joint contracture of the hand, Talipes equinovarus OMIM:611067
Syndactyly, Type V
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... OMIM:186300
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Talipes equinovarus, Upper limb amyotrophy ORPHA:99940
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Knee flexion contracture, Absent uvula, Femoral retroversio... OMIM:616531
Bardet-Biedl Syndrome 5
Syndactyly, Micropenis, Polydactyly, Brachydactyly OMIM:615983
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Spina bifida, Finger syndactyly, Synosto... ORPHA:957
Congenital Arthrogryposis With Anterior Horn Cell Disease
Areflexia of lower limbs, High palate, Scoliosis, Hip dysplasia, Short neck, Kyphosis, Rocker bot... OMIM:611890
Split-Hand/Foot Malformation 6
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hand oligodactyly, Split hand, Split foot OMIM:225300
Charlie M Syndrome
Tooth agenesis, Finger syndactyly, Abnormal metacarpal morphology, Narrow mouth, Thin vermilion b... ORPHA:1406
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal m... ORPHA:2631
Moebius Syndrome
Clinodactyly, Camptodactyly, High palate, Abnormality of the dentition, Pes planus, Bifid uvula, ... OMIM:157900
Lambert Syndrome
Hypospadias, Wide mouth, Talipes equinovarus OMIM:245550
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly OMIM:615938
Tyrosinemia Type 2
Palmoplantar keratoderma, Abnormality of amino acid metabolism ORPHA:28378
Cenani-Lenz Syndactyly Syndrome
Scoliosis, Pulmonic stenosis, Ectopic kidney, Syndactyly, Enamel hypoplasia, Hemivertebrae, Prema... OMIM:212780
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Talipes equinovarus OMIM:181400
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Areflexia of lower limbs, Scoliosis, Tongue atrophy, Areflexia of upper limbs, Talipes equinovarus OMIM:616155
1Q21.1 Microduplication Syndrome
Hip dislocation, Hip dysplasia, Tetralogy of Fallot, Talipes equinovarus, Hypospadias ORPHA:250994
Prieto Syndrome
Abnormality of the dentition, Coxa valga, Patellar subluxation, Patellar dislocation, Radial devi... OMIM:309610
Arthrogryposis, Distal, Type 4
Camptodactyly, Scoliosis, Lumbar scoliosis, Tibial deviation of toes, Equinovarus deformity, Camp... OMIM:609128
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate, Toe syndactyly, Split hand, Split foot OMIM:183700
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Abnormality of the humerus, Hip dislocation, High palate, Pulmoni... ORPHA:3098
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Scoliosis, High palate, Cleft palate, Talipes equinovarus, Tongue fascic... OMIM:614399
Microtriplication 11Q24.1
Irregularly spaced teeth, Scoliosis, Short neck, Cleft palate, Genu valgum, Metatarsus adductus, ... ORPHA:289522
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Short neck, Pes cavus, Umbilical hernia, Sacral dimple, Long philtrum, Smooth philtr... OMIM:613544
Congenital Myopathy 24
High palate, Pes cavus, Cardiomyopathy, Scapular winging, Talipes equinovarus OMIM:617336
Schwartz-Jampel Syndrome, Type 1
Scoliosis, Anterior bowing of long bones, Shoulder flexion contracture, Narrow mouth, Bowing of t... OMIM:255800
Multiple Synostoses Syndrome 2
Vertebral fusion, Finger symphalangism, Carpal synostosis, Humeroradial synostosis, Talipes equin... OMIM:610017
Arthrogryposis, Distal, Type 5D
Camptodactyly, Scoliosis, Congenital hip dislocation, Open mouth, Furrowed tongue, Short neck, Ca... OMIM:615065
Charcot-Marie-Tooth Disease, Type 4B1
Scoliosis, Talipes equinovarus OMIM:601382
Bruck Syndrome 1
Scoliosis, Vertebral wedging, Knee flexion contracture, Kyphosis, Platyspondyly, Protrusio acetab... OMIM:259450
Chromosome 15Q26-Qter Deletion Syndrome
Micropenis, Short middle phalanx of finger, Talipes equinovarus, Hypospadias, Abnormal cardiac se... OMIM:612626
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Hip dislocation, Lumbar hyperlordosis, Kyphosis, Talipes equinovarus OMIM:616756
2Q32Q33 Microdeletion Syndrome
Oligodontia, High palate, Clinodactyly of the 5th finger, Cleft palate, Broad thumb, Narrow mouth... ORPHA:251019
Roussy-Lévy Syndrome
Scoliosis, Intrinsic hand muscle atrophy, Pes cavus, Urinary bladder sphincter dysfunction, Talip... ORPHA:3115
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Clinodactyly, Pes planus, Scoliosis, Club-shaped proximal femur, Cleft palate, Platyspondyly, Bra... OMIM:184250
Contractural Arachnodactyly, Congenital
Scoliosis, Ventricular septal defect, Atrial septal defect, Patellar dislocation, Congenital fing... OMIM:121050
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Osseous finger syndactyly, Short distal phalanx of t... ORPHA:370010
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Scoliosis, Bilateral talipes equinovarus, Flexion contracture of finger, Long philtrum, Adducted ... ORPHA:319332
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Tooth agenesis, Flattened epiphysis, Advanced ossification of carpal bones, Cleft pala... OMIM:618363
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Scoliosis, Enlarged kidney, Cleft palate, Bifid tongue, Cleft upper ... OMIM:613091
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Scoliosis, Lumbar hyperlordosis, Hip dislocation, Delayed calcaneal ossifica... OMIM:183900
Brachydactyly Type B
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... ORPHA:93383
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral... OMIM:223800
Maxillonasal Dysplasia
Short distal phalanx of finger, Scoliosis, Tooth agenesis, Low levels of vitamin K, Microdontia, ... ORPHA:1248
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Talipes equinovarus OMIM:208100
Spinocerebellar Ataxia, Autosomal Recessive 20
Macroglossia, Camptodactyly, Scoliosis, High palate, Oligosacchariduria, Broad philtrum, Dental c... OMIM:616354
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... ORPHA:93322
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
3-4 finger syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypopl... OMIM:609432
Fibular Hemimelia
Oligodactyly, Short tibia, Increased laxity of ankles, Abnormal heart morphology, Toe syndactyly,... ORPHA:93323
Spastic Paraplegia 64, Autosomal Recessive
Talipes equinovarus OMIM:615683
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Knee flexion contracture, Kyphosis, Joint contracture of the hand, Tapered finger, Hig... ORPHA:536516
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Scoliosis, Hypoplasia of teeth, Osteolysis involving bones of the lower limbs, Syn... ORPHA:88630
Aarskog-Scott Syndrome
Camptodactyly of finger, Cleft palate, Single transverse palmar crease, Cleft upper lip, Short ne... ORPHA:915
Holt-Oram Syndrome
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Thoracic scolio... OMIM:142900
Charcot-Marie-Tooth Disease, Type 4B2
Pes cavus, Ulnar claw, Hammertoe, Talipes equinovarus, Kyphoscoliosis, Split hand OMIM:604563
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Triangular tongue, Dilated cardiomyopathy, Talipes equinovarus, Calf muscle hypertr... OMIM:616827
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Short neck, Hydranencephaly, Renal cyst, Renal hypoplasia, Cutaneous syndactyly, Clinodactyly of ... OMIM:236500
Ulnar Hypoplasia With Mental Retardation
Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement, Talipes equinovarus OMIM:276821
Brachydactyly Type B2
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... ORPHA:140908
Congenital Disorder Of Glycosylation, Type Iih
Scoliosis, Bilateral coxa valga, Finger clinodactyly, Talipes equinovarus, Type II transferrin is... OMIM:611182
Aminopterin Syndrome Sine Aminopterin
Rudimentary postaxial polydactyly of hands, Oligodontia, High palate, Short thumb, Umbilical hern... OMIM:600325
Terminal Osseous Dysplasia
Camptodactyly of toe, Camptodactyly of finger, Abnormality of the lower limb, Abnormal foot bone ... OMIM:300244
Periventricular Nodular Heterotopia 7
Ventricular septal defect, Knee flexion contracture, Contracture of the proximal interphalangeal ... OMIM:617201
Mehmo Syndrome
Micropenis, Tapered finger, Hypoplasia of penis, Downturned corners of mouth, Thick vermilion bor... ORPHA:85282
Congenital Disorder Of Glycosylation, Type Iig
Cleft palate, Narrow mouth, Thoracic scoliosis, Smooth philtrum, Single transverse palmar crease,... OMIM:611209
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Hydronephrosis, Camptodactyly of finger, Lumbar hyperlordosis, Sp... ORPHA:2839
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis, Split hand, Talipes equinovarus OMIM:607831
Essential Fructosuria
Hyperglycemia ORPHA:2056
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, Abnormality of the vertebral column, Ectopic kidney, Abnormal heart morpho... OMIM:239800
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Camptodactyly, High palate, Bilateral talipes equinovarus, Arachnodactyly, Dental crowding, Narro... OMIM:615539
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Crisponi/Cold-Induced Sweating Syndrome 1
Limited elbow extension, Camptodactyly, High palate, Pes planus, Short neck, Tapered finger, Narr... OMIM:272430
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Scoliosis, Proximal placement of thumb, Deep philtrum, Abnormality of the wrist, Finger syndactyl... ORPHA:1825
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Polydactyly, Renal cyst, Syndactyly, Brachydactyly OMIM:615982
Hypomelanosis Of Ito
Irregularly spaced teeth, Hand polydactyly, Scoliosis, Syndactyly, Kyphosis, Radial deviation of ... OMIM:300337
Nevus Comedonicus Syndrome
Scoliosis, Preaxial polydactyly, Spina bifida, Finger syndactyly, Toe syndactyly, Abnormal foot m... ORPHA:64754
Sillence Syndrome
Scoliosis, Pes cavus, Broad thumb, Brachydactyly, Broad metatarsal, Camptodactyly, Flat acetabula... ORPHA:3168
Autosomal Recessive Centronuclear Myopathy
High palate, Bifid uvula, Left ventricular hypertrophy, Pes cavus, Abnormal heart valve morpholog... ORPHA:169186
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome
Abnormal finger morphology, Movement abnormality of the tongue, Bilateral talipes equinovarus ORPHA:2560
Charcot-Marie-Tooth Disease Type 4A
Scoliosis, Hyporeflexia of upper limbs, Shoulder girdle muscle weakness, Bilateral talipes equino... ORPHA:99948
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Metaphyseal cupping, Pes cavus, Irregular capital femoral epiphysis, Short femoral... OMIM:616716
17Q12 Microduplication Syndrome
Atrial septal defect, Finger syndactyly, Cleft palate, Toe syndactyly, Tracheoesophageal fistula,... ORPHA:261272
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hip dysplasia, Pyloric stenosis, Hydroureter, Tapered finger, Nephrolithiasis, Talipes equinovaru... OMIM:617219
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Scoliosis, Hip dislocation, Lumbar hyperlordosis, Genu varum, Ovoid vertebral bodies... OMIM:619451
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Hip dislocation, Tetralogy of Fallot, Horseshoe kidney, Cleft palate, Patellar disloca... ORPHA:3320
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Cleft palate, Kyphoscoliosis, Postaxial polydactyly OMIM:612913
Microphthalmia With Limb Anomalies
Hip dislocation, Abnormal form of the vertebral bodies, Horseshoe kidney, Short tibia, Abnormalit... ORPHA:1106
Spastic Paraplegia 47, Autosomal Recessive
High palate, Genu recurvatum, Talipes equinovarus, Pes planus, Acetabular dysplasia, Short philtr... OMIM:614066
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maternal diabetes, Hyperglycemia, Maturity-onset diabetes of the young OMIM:616329
Meckel Syndrome, Type 9
Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus OMIM:614209
Limb-Mammary Syndrome
Camptodactyly, Hallux valgus, Bifid uvula, Syndactyly, Cleft palate, Hypodontia, Joint contractur... OMIM:603543
Keratoconus Posticus Circumscriptus
Short neck, Clinodactyly of the 5th finger, Cleft palate, Abnormal vertebral segmentation and fus... OMIM:244600
Ehlers-Danlos Syndrome, Classic Type, 2
Congenital hip dislocation, Talipes equinovarus OMIM:130010
Freeman-Sheldon Syndrome
Camptodactyly of finger, Scoliosis, Ulnar deviation of finger, Abnormality of the dentition, Abse... ORPHA:2053
Monosomy 5P
High palate, Scoliosis, Short neck, Finger syndactyly, Small hand ORPHA:281
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Oligodontia, Anodontia, Short thumb, Proximal placement of thumb,... ORPHA:90650
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Short metatarsal, Deep philtrum, Syndactyly, Short metacarpal, Talon cusp, Cleft palate... OMIM:605282
Prune Belly Syndrome
Anal atresia, Scoliosis, Congenital hip dislocation, Atrial septal defect, Tetralogy of Fallot, V... ORPHA:2970
Juberg-Hayward Syndrome
Scoliosis, Anteriorly placed anus, Short thumb, Horseshoe kidney, Abnormal finger morphology, Abn... ORPHA:2319
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Syndactyly, Cleft palate, Median cleft lip OMIM:300484
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Micropenis, Bilateral talipes equinovarus, Atrial septal defect, Overlapping toe, Pr... OMIM:618142
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Atrial septal defect, Coronal cleft vertebrae, Short neck, Hypoplastic vertebra... ORPHA:2347
Schneckenbecken Dysplasia
Bilateral talipes equinovarus, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Advanced... OMIM:269250
Spastic Paraplegia 45, Autosomal Recessive
Talipes equinovarus OMIM:613162
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Marden-Walker Syndrome
Camptodactyly, Dextrocardia, Scoliosis, High palate, Pyloric stenosis, Short neck, Micropenis, Ky... OMIM:248700
Contractures-Developmental Delay-Pierre Robin Syndrome
Hip dysplasia, Short thumb, Atrial septal defect, Thoracolumbar scoliosis, Overlapping toe, Abnor... ORPHA:436003
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Bilateral talipes equinovarus, Kyphosis, Flexion contracture of finger, Adducted thumb... OMIM:618484
Aase-Smith Syndrome I
Open mouth, Ventricular septal defect, Cleft palate, Slender finger, Talipes equinovarus OMIM:147800
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Anal atresia, Thoracolumbar scoliosis, Urethral obstruction, Preaxial hand polydactyly, Renal hyp... OMIM:601389
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, High palate, Overlapping toe, Short tibia, Narrow mouth, Absent forearm, Single tra... OMIM:201170
Holt-Oram Syndrome
Down-sloping shoulders, Scoliosis, Abnormality of the humerus, Hypoplastic left heart, Absent thu... ORPHA:392
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Camptodactyly, High palate, Knee flexion contracture, Scapular winging, Dental crowding, Hip cont... OMIM:617468
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short distal phalanx of finger, Scoliosis, Camptodactyly of finger, Ventricular septal defect, Fl... OMIM:143095
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh... ORPHA:93409
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, High palate, Tapered finger, Short palm, Talipes equinovarus, Clinodactyly ORPHA:85279
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Scoliosis, Ventricular septal defect, Atrial septal defect, Short neck, Overlapping ... ORPHA:505237
Obsolete: Early-Onset Schizophrenia
Emotional lability, Abnormal emotion/affect behavior, Suicidal ideation, Cognitive impairment, Un... ORPHA:96369
Perrault Syndrome 1
Pes cavus, High palate, Scoliosis, Talipes equinovarus OMIM:233400
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Scoliosis, Pes cavus, Ulnar claw, Hammertoe, Talipes equinovarus OMIM:608340
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Grayish enamel, Scoliosis, Hip dysplasia, Cervical subluxation, Widely space... OMIM:253010
Mucopolysaccharidosis, Type Vii
Scoliosis, Cardiomyopathy, Widely spaced teeth, Heparan sulfate excretion in urine, Short neck, N... OMIM:253220
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Low levels of vitamin E, Abnormality of amino acid metabolism, Esophageal varix, Hypertrophic car... ORPHA:309854
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Scoliosis, Lumbar scoliosis, Advanced ossification of carpal bones, Coxa valga, Cleft palate, Kne... OMIM:620269
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Cleft palate, Carpal synostosis, Bowed humerus, Coxa vara, Brachydactyly, Short neck, ... OMIM:272460
Nail-Patella Syndrome
Scoliosis, Hypoplastic radial head, Iliac horns, Cleft palate, Patellar dislocation, Triceps apla... OMIM:161200
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Scoliosis, Preaxial foot polydactyly, Cleft p... OMIM:252100
Oculofaciocardiodental Syndrome
Oligodontia, Scoliosis, Tooth malposition, Short thumb, Solitary median maxillary central incisor... ORPHA:2712
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Bilateral talipes equinovarus OMIM:616486
Teebi-Shaltout Syndrome
Hydronephrosis, Camptodactyly, Oligodontia, Ureteral stenosis, Ventricular septal defect, Horsesh... OMIM:272950
Acrorenal Syndrome
Renal insufficiency, Cleft palate, Abnormal morphology of ulna, Abnormality of tibia morphology, ... ORPHA:971
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Abnormality of the lower limb,... ORPHA:2141
Myopathy, Centronuclear, 2
High palate, Scoliosis, Pes cavus, Kyphosis, Scapular winging, Talipes equinovarus, Hyperlordosis OMIM:255200
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Spina bifida, Cleft palate, Anencephaly, Ectop... ORPHA:2476
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Bilateral talipes equinovarus, Coxa valga, Patellar subluxation, Finger clinodactyly, Abnormal nu... ORPHA:2958
Nail-Patella Syndrome
Spondylolysis, Scoliosis, Talipes calcaneovalgus, Iliac horns, Patellar dislocation, Spondylolist... ORPHA:2614
Congenital Disorder Of Glycosylation, Type Id
High palate, Clinodactyly of the 5th toe, Bifid uvula, Villous atrophy, Long fingers, Type I tran... OMIM:601110
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Hip dysplasia, Capitate-hamate fusion, Short metacarpal, Irregular epiph... OMIM:614078
Scapuloperoneal Spinal Muscular Atrophy
Clinodactyly, Scoliosis, Hip dysplasia, Peroneal muscle atrophy, Peroneal muscle weakness, Kyphos... OMIM:181405
Brachydactyly, Type B2
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... OMIM:611377
Crane-Heise Syndrome
Short distal phalanx of finger, Finger syndactyly, Hypoplastic scapulae, Cleft palate, Hypoplasia... ORPHA:1512
Kbg Syndrome
Oligodontia, Scoliosis, Vertebral fusion, Thoracic kyphosis, Short neck, Finger clinodactyly, Cut... ORPHA:2332
Atelosteogenesis Type Ii
Increased femoral anteversion, Cleft palate, Hypoplastic cervical vertebrae, Short phalanx of fin... ORPHA:56304
Constricting Bands, Congenital
Encephalocele, Hand polydactyly, Scoliosis, Syndactyly, Cleft palate, Bladder exstrophy, Ectopia ... OMIM:217100
Inverted Duplicated Chromosome 15 Syndrome
High palate, Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis, Clinodact... ORPHA:3306
Proximal Symphalangism
Elbow ankylosis, Camptodactyly of finger, Abnormality of the wrist, Synostosis of carpal bones, F... ORPHA:3250
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Short thumb, Finger syndactyly, Abnormality of dental morphology, Everte... ORPHA:2251
Nescav Syndrome
Talipes equinovarus OMIM:614255
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Scoliosis, Ventricular septal defect, Widely spaced teeth, Deep philtrum, 3-4 finger... OMIM:612530
Intellectual Developmental Disorder, Autosomal Recessive 61
Conical tooth, High palate, Scoliosis, Pes cavus, Tapered finger, Long fingers, Prominent fingert... OMIM:617773
Charcot-Marie-Tooth Disease Type 4G
Scoliosis, Distal lower limb muscle weakness, Pes cavus, Pes valgus, Abnormality of the hand, Abn... ORPHA:99953
Cousin Syndrome
Cleft palate, Fibular aplasia, Microglossia, Joint contracture of the hand, Hydronephrosis, Campt... OMIM:260660
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsulinemia, Maturity... ORPHA:99886
Boomerang Dysplasia
Abnormality of the humerus, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Poorly... ORPHA:1263
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Myelomeningocele, Multiple renal cysts... ORPHA:66637
Acromesomelic Dysplasia 3
Short finger, Aplasia of the proximal phalanx of the 2nd finger, Bilateral talipes equinovarus, W... OMIM:609441
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tooth malposition, Complete duplication of the middle phalanx of the 3rd finger, Nar... ORPHA:363417
Congenital Myopathy 13
High palate, Scoliosis, Bilateral talipes equinovarus, Cleft palate, Downturned corners of mouth,... OMIM:255995
Cystathioninuria
Cystathioninuria, Nephrolithiasis, Talipes equinovarus ORPHA:212
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Cardiomegaly, Thin upper lip vermilion OMIM:613576
Poland Syndrome
Dextrocardia, Syndactyly, Hemivertebrae, Unilateral oligodactyly, Unilateral brachydactyly, Hypop... OMIM:173800
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Open mouth, Short neck, Everted lower lip vermilion, Patent foramen ovale, Talipes ... OMIM:616789
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Talipes equinovarus, Ventricular septal defect OMIM:209770
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Hyperglycemia, Type I diabetes mellitus OMIM:606176
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Abnormality of amino acid metabolism ORPHA:220295
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Hip dislocation, Congenital hip dislocation, Femur fracture, Ulnar deviation of the ha... OMIM:618291
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Umbilical hernia, Finger syndactyly, Preaxial foot polydactyly, Toe s... ORPHA:380
Caudal Regression Syndrome
Abnormal iliac wing morphology, Anal atresia, Scoliosis, Vesicoureteral reflux, Ectopic kidney, A... ORPHA:3027
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Down-sloping shoulders, High palate, Scoliosis, Ventricular septal defect, Atrial septal defect, ... OMIM:617452
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Abnormality of the alveola... OMIM:225500
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Scoliosis, Abnormality of fibula morphology, Genu varum, Finger syndacty... ORPHA:2633
Atelosteogenesis Type I
Malrotation of colon, Scoliosis, Abnormality of fibula morphology, Absent or minimally ossified v... ORPHA:1190
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Anal atresia, Hypoplastic left heart, Pulmonic stenosis, Tetralogy of Fallot, Atr... OMIM:220210
Tarp Syndrome
Hydronephrosis, High palate, Bilateral talipes equinovarus, Tetralogy of Fallot, Atrial septal de... OMIM:311900
Isolated Osteopoikilosis
Abnormal long bone morphology, Abnormality of limb bone, Abnormal pelvis bone morphology, Syndact... ORPHA:166119
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Agenesis of permanent teeth, Ventricular septal defect, Cleft palate, Broad thumb, Narrow mouth, ... ORPHA:251028
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, High palate, Proteinuria, Hallux valgus, Diffuse mesangial scl... OMIM:618348
Wieacker-Wolff Syndrome
Camptodactyly, Scoliosis, Hip dislocation, High palate, Short neck, Proximal placement of thumb, ... OMIM:314580
Desbuquois Dysplasia 2
Hip dislocation, Bifid uvula, Advanced ossification of carpal bones, Cleft palate, Broad thumb, K... OMIM:615777
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis, High palate, Proximal radial head dislocation, Proximal placement of thumb, Solit... OMIM:602418
Teebi Hypertelorism Syndrome 2
High palate, Syndactyly, Microdontia, Cleft palate, Everted lower lip vermilion, Delayed eruption... OMIM:619736
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar aplasia, Wide capital femoral epiphyses, High palate, Patellar hypoplasia, Cleft palate,... OMIM:147891
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Lumbar scoliosis, Thoracic scoliosis, Talipes equinovarus OMIM:616171
Metatropic Dysplasia
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Kyphosis, Clinodactyly of the... ORPHA:2635
Facial Clefting, Oblique, 1
Cleft upper lip, Deep palmar crease, Talipes calcaneovalgus, Cleft palate OMIM:600251
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormality of the elbow, Humeroradial synostosis, Abnormal mor... ORPHA:2019
Joubert Syndrome 24
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus OMIM:616654
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Hip dislocation, Short thumb, Proximal placement of thumb, Bifid uvul... OMIM:268305
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Finger... OMIM:612576
Acrofacial Dysostosis, Rodríguez Type
Abnormal form of the vertebral bodies, Arrhinencephaly, Finger syndactyly, Abnormal pelvic girdle... ORPHA:1788
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Tented upper lip vermilion, Long philtrum, Talipes equinovarus OMIM:619972
Wieacker-Wolff Syndrome, Female-Restricted
Scoliosis, Hip dislocation, Short neck, Radial deviation of the hand, Urinary incontinence, Kypho... OMIM:301041
Larsen Syndrome
Spondylolysis, Scoliosis, Hip dislocation, Ventricular septal defect, Atrial septal defect, Short... OMIM:150250
Carey-Fineman-Ziter Syndrome
Hydronephrosis, High palate, Scoliosis, Ulnar deviation of finger, Aplasia/Hypoplasia of the tong... ORPHA:1358
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Oligodontia, Scoliosis, Atrial septal defect, Ventricular septal defect, Horseshoe kidney, Protei... OMIM:235510
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Macroglossia, Camptodactyly, High palate, Atrial septal defect, Oligosacchariduria, Broad philtru... ORPHA:397709
Pfeiffer Syndrome
Open mouth, High palate, Hip dysplasia, Short neck, Finger syndactyly, Synostosis of carpal bones... ORPHA:710
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Abnormal distal phalanx morphology of finger, Bowing of the long bones, Abnormal hip bone morphol... ORPHA:2725
Atelosteogenesis Type Iii
Abnormality of the humerus, Hip dislocation, Short tibia, Patellar dislocation, Knee dislocation,... ORPHA:56305
Central Core Disease
Congenital hip dislocation, Talipes equinovarus, Pes planus, Mitral valve prolapse, Kyphoscoliosi... ORPHA:597
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Short distal phalanx of finger, High palate, Polydactyly, Postaxial ... OMIM:614091
Rubinstein-Taybi Syndrome 2
High palate, Talon cusp, Syndactyly, Increased overbite, Broad thumb, Narrow palate, Dental maloc... OMIM:613684
Lethal Congenital Contracture Syndrome 10
Macroglossia, High palate, Ventricular septal defect, Short neck, Overriding aorta, Short long bo... OMIM:617022
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Intrinsic hand muscle atrophy, Distal lower limb muscle weakness, Abnormality of the vertebral co... ORPHA:101097
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Perimembranous ve... OMIM:600987
Arthrogryposis, Distal, Type 2A
Scoliosis, Hip dislocation, Rocker bottom foot, Flexion contracture of finger, Shoulder flexion c... OMIM:193700
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Intestinal malrotation, Tetralogy of Fallot, Submucous cleft hard palate, Syndactyly, Clinodactyl... OMIM:614701
Czeizel-Losonci Syndrome
Hydronephrosis, High palate, Dextrocardia, 2-3 finger syndactyly, 3-4 finger syndactyly, Tracheoe... ORPHA:2437
Martsolf Syndrome 1
Tooth malposition, Cardiomyopathy, Short toe, Thoracic scoliosis, Short phalanx of finger, Osteop... OMIM:212720
Eem Syndrome
Selective tooth agenesis, Widely spaced teeth, Ectrodactyly, Finger syndactyly, Microdontia, Abno... ORPHA:1897
Pontocerebellar Hypoplasia, Type 12
Overlapping fingers, Rocker bottom foot, Talipes equinovarus OMIM:618266
Split-Hand/Foot Malformation 3
Camptodactyly, High palate, Cleft palate, Narrow mouth, Renal hypoplasia, Split hand OMIM:246560
Atelosteogenesis, Type I
Clubbing, Short metatarsal, Cleft palate, Multinucleated giant chondrocytes in epiphyseal cartila... OMIM:108720
Filippi Syndrome
2-4 toe syndactyly, Ventricular septal defect, Serrated incisors, Abnormality of dental morpholog... OMIM:272440
Arthrogryposis, Distal, Type 5
Absent phalangeal crease, Scoliosis, High palate, Bilateral talipes equinovarus, Limited wrist ex... OMIM:108145
Chromosome 13Q33-Q34 Deletion Syndrome
Short thumb, Penoscrotal transposition, Single transverse palmar crease, Camptodactyly, Irregular... OMIM:619148
Lethal Congenital Contracture Syndrome 11
Camptodactyly, Flexion contracture of finger, Bilateral talipes equinovarus, Elbow flexion contra... OMIM:617194
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Abnormal metacarpal morphology, Cleft palate, Abnormal pelvic girdle bone morp... ORPHA:3429
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae, Narrow palm, Syndactyly, Abnormal he... ORPHA:1445
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Pes planus, Atrial septal defect, Ventricular septal defect, Pes valgus, Abnormal heart morpholog... ORPHA:477817
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip dislocation, Ventricular septal defect, Atrial septal defect, Advanced ossification of carpal... OMIM:271640
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Camptodactyly, Scoliosis, Pursed lips, Short neck, Calcaneovalgus deformity, Umbilical hernia, Kn... OMIM:616266
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Abnormality of the dentition, Short neck... ORPHA:2994
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, High palate, Proteinuria, Diffuse mesangial sclerosis, Stage 5... OMIM:616730
Craniofrontonasal Dysplasia
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Camptodactyly of finger, Scol... ORPHA:1520
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, High palate, Scoliosis, Toe extensor amyotrophy, Dilated car... ORPHA:59135
Larsen-Like Syndrome
Radial deviation of the 4th finger, Cleft palate, Dental malocclusion, Talipes equinovarus, Kypho... OMIM:608545
6P22 Microdeletion Syndrome
Hydronephrosis, Abnormal palate morphology, Short neck, Finger syndactyly, Clinodactyly ORPHA:251046
Coloboma Of Macula And Skeletal Anomalies
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... OMIM:216800
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Abnormality of the tibial plateaux, Cleft palate, Hump-shaped mound of bone in central... ORPHA:93284
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Short humerus, High palate, Hip dislocation, Lumbar hyperlordosis, Dislocated radial head, Hypopl... OMIM:602471
Verheij Syndrome
Scoliosis, Vertebral fusion, Hip dislocation, Ventricular septal defect, Short neck, Renal cyst, ... OMIM:615583
Acrodysplasia Scoliosis
Scoliosis, Spina bifida occulta, Vertebral segmentation defect, Brachydactyly ORPHA:2956
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Anal atresia, Short neck, Abnormality of the vertebral col... ORPHA:2345
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Talipes equinovarus OMIM:613710
Otopalatodigital Syndrome, Type I
Short distal phalanx of finger, Scoliosis, Hip dislocation, Selective tooth agenesis, Abnormality... OMIM:311300
Chromosome 18Q Deletion Syndrome
Scoliosis, Dysplastic pulmonary valve, Bifid uvula, Ventricular septal defect, Atrial septal defe... OMIM:601808
Spastic Paraplegia 86, Autosomal Recessive
Talipes equinovalgus, Scoliosis, Bilateral talipes equinovarus OMIM:619735
Slc35A2-Cdg
Camptodactyly of finger, Scoliosis, Abnormal long bone morphology, Decreased sialylation of O-lin... ORPHA:356961
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... OMIM:262190
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Camptodactyly, Scoliosis, Open mouth, Atrial septal defect, Ventricular septal defect, Talipes eq... OMIM:301039
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Narrow mouth, Downturned corners of mouth, Long philtrum, Talipes equinovarus, Cer... OMIM:617333
Arthrogryposis, Distal, With Impaired Proprioception And Touch
Camptodactyly, Scoliosis, High palate, Hip dysplasia, Talipes equinovarus, Pes planus, Arachnodac... OMIM:617146
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Hip dislocation, Hallux valgus, Hyperextensibility of the finger joints, Kyphosis, Bla... OMIM:617821
Myopathy, Myofibrillar, 7
Enuresis nocturna, Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Pes cavus, Urinary inconti... OMIM:617114
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Median cleft palate, Absent tibia, Bilateral talipes equinovarus, Patellar hypoplasia, Preaxial f... OMIM:119800
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Hip dislocation, Talipes calcaneovalgus, Rocker bottom foot, Cleft palate, Narrow mout... OMIM:265000
Charcot-Marie-Tooth Disease, Type 4C
Scoliosis, Pes cavus, Tongue atrophy, Hammertoe, Talipes equinovarus, Tongue fasciculations OMIM:601596
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hip dislocation, Atrial septal defect, Proximal placement of thumb, Horseshoe kidney, Short metat... OMIM:609945
Morgagni-Stewart-Morel Syndrome
Cognitive impairment, Abnormal metabolism, Suicidal ideation, Memory impairment ORPHA:77296
Cantú Syndrome
Deep plantar creases, Short distal phalanx of finger, Broad hallux phalanx, Abnormal metaphysis m... ORPHA:1517
Mosaic Trisomy 9
Camptodactyly of finger, Scoliosis, Hip dislocation, Ventricular septal defect, Atrial septal def... ORPHA:99776
Spastic Paraplegia 55, Autosomal Recessive
Talipes equinovarus OMIM:615035
Ritscher-Schinzel Syndrome 2
Camptodactyly of finger, Short distal phalanx of finger, Scoliosis, Camptodactyly, High palate, A... OMIM:300963
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Thoracic kyphosis, Ovoid vertebral bodies, Short neck, Flattened epiphysis, Flat ace... ORPHA:163649
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hypoplastic ilia, Short neck, Broad long bones, Abnormal heart morphology, Anisosp... ORPHA:1865
Catel-Manzke Syndrome
Scoliosis, Bifid uvula, Ventricular septal defect, Cleft palate, Narrow mouth, Short toe, Single ... OMIM:616145
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
3C Syndrome
Scoliosis, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Tetralogy of ... ORPHA:7
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Scoliosis, Short neck, Meningocele, Umbilical hernia, Abnormality of the... ORPHA:2311
Aarskog-Scott Syndrome
Scoliosis, Cleft palate, Short 5th finger, Single transverse palmar crease, Pes planus, Cleft upp... OMIM:305400
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Hypoplastic ilia, Hip dislocation, Hip dysplasia, Cervical spine instabilit... OMIM:615349
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, Umbilical hernia, 1-3 to... OMIM:175700
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Selective tooth agenesis, Hy... OMIM:305620
Orofaciodigital Syndrome Iv
Short finger, Lobulated tongue, High palate, Hand polydactyly, Postaxial polydactyly, Short tibia... OMIM:258860
Van Den Ende-Gupta Syndrome
Cleft palate, Narrow mouth, Narrow foot, Joint contracture of the hand, Camptodactyly of toe, Hal... OMIM:600920
Joint Laxity, Short Stature, And Myopia
Umbilical hernia, Cervical kyphosis, Kyphoscoliosis, Talipes equinovarus OMIM:617662
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Hamar... OMIM:217085
Developmental And Epileptic Encephalopathy 91
Short philtrum, Thick vermilion border, Talipes equinovarus, Single transverse palmar crease OMIM:617711
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Broad distal phalanges of all fingers, Scoliosis, Hip dislocation, Atrial septal defect, Shoulder... OMIM:245600
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Tetralogy of Fallot, Atrial septal defect, Atrioventricular canal d... OMIM:274000
Blepharophimosis-Impaired Intellectual Development Syndrome
Enuresis, Short distal phalanx of finger, Scoliosis, Hip dysplasia, Widely spaced teeth, Microdon... OMIM:619293
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Narrow palate, Scoliosis, Talipes equinovarus OMIM:617481
Diaphanospondylodysostosis
Enlarged kidney, Short neck, Horseshoe kidney, Cystic renal dysplasia, Cleft palate, Unossified s... OMIM:608022
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Camptodactyly, Micropenis, Bifid uvula, Postaxial polydactyly, Renal ... OMIM:614175
Cardiospondylocarpofacial Syndrome
Tooth malposition, Abnormal form of the vertebral bodies, Synostosis of carpal bones, High, narro... ORPHA:3238
Moebius Syndrome
Open mouth, Absent hand, Tooth agenesis, High palate, Aplasia/Hypoplasia of the tongue, Aplasia/H... ORPHA:570
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Hydronephrosis, Postaxial foot polydactyly, Butterfly vertebrae, Vesicoureteral reflu... OMIM:301056
Giant Axonal Neuropathy
Scoliosis, Pes cavus, Abnormal hand morphology, Abnormality of the Achilles tendon, Talipes equin... ORPHA:643
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Ventricular septal defect, Short neck, Fused cervical vertebrae, Cleft palate, Cervica... OMIM:214300
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Scoliosis, Bifid uvula, Narrow palm, Short neck, Vertebral compression fracture, Cleft palate, Lo... OMIM:309583
Summitt Syndrome
Syndactyly OMIM:272350
White Forelock With Malformations
Abnormal palate morphology, Atrial septal defect, Deep philtrum, Finger syndactyly, Spina bifida ... ORPHA:2475
Vacterl Association With Hydrocephalus
Anal atresia, Radial club hand, Abnormality of the vertebral column, Abnormal heart morphology, A... OMIM:276950
Dystonia, Dopa-Responsive
Pes cavus, Scoliosis, Talipes equinovarus OMIM:128230
Cenani-Lenz Syndrome
Oligodactyly, Foot oligodactyly, Scoliosis, Hip dislocation, Short thumb, Finger syndactyly, Syno... ORPHA:3258
Bruck Syndrome
Scoliosis, Kyphosis, Platyspondyly, Talipes equinovarus, Bowing of the long bones ORPHA:2771
Multiple Synostoses Syndrome 1