Gene Summary

Name:
3-hydroxyanthranilate 3,4-dioxygenase
Synonyms:
0610007K21Rik,  0610012J07Rik,  3HAO,  3-HAOxase,  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
abnormal eye morphology Haaotm2b(KOMP)Mbp HOM Early adult 0.00
increased vertical activity Haaotm2b(KOMP)Mbp HOM Early adult 1.28×10-06
increased bone mineral content Haaotm2b(KOMP)Mbp HOM   Early adult 1.58×10-05
increased circulating glucose level Haaotm2b(KOMP)Mbp HOM Early adult 3.65×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Not available
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 Not available
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 Not available
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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 Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Hypoplastic sacrum, Atrial septal defect, Talipes, Renal hypoplasia, Spinal dysraphism, Absence o... 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
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Upper limb phocomelia, Polydactyly, Abnormal heart morpholog... ORPHA:294975
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Thoracic kyphosis, Pes planus, Large hands, Long toe, Cleft lip, Cleft palate OMIM:300263
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Narrow mouth, Camptodactyly, Talipes equinovalgus, Adducted thumb, Sandal ga... OMIM:618435
Arthrogryposis, Distal, Type 1C
Pursed lips, Rocker bottom foot, Camptodactyly of finger, Thin vermilion border, Scoliosis, Narro... OMIM:619110
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Abnormality of the dentition, Abnormality of the metacarpa... ORPHA:3104
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Scoliosis, Limited elbow flexion, Epiphyseal dysplasia, Double-layered patella, Sh... OMIM:226900
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Brachydactyly Type A4
Short middle phalanx of the 2nd finger, Shortening of all middle phalanges of the toes, Symphalan... ORPHA:93394
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Abnormality of the elbow, Abnormality of the metaphysis, High palate, Elbow flexion co... ORPHA:93359
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Elbow dislocation, Rhizomelia, Cleft palate, Flattened epiphysis, Epiphys... ORPHA:166016
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Aase-Smith Syndrome
Scoliosis, Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morpholog... ORPHA:916
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Hip dysplasia, Genu valgum, Acetabular dysplasia, Talipes equinovarus, Coxa valga OMIM:613618
Fructose And Galactose Intolerance
Galactose intolerance, Fructose intolerance OMIM:229500
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... ORPHA:1891
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, High palate, Pes cavus, Talipes equinovarus, Cardiomyopathy OMIM:617336
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Scoliosis, Platyspondyly, Coronal cleft vertebrae, Short middle phalanx of... OMIM:256050
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, Irregular epiphyses, Short long b... OMIM:222600
Gordon Syndrome
Scoliosis, Camptodactyly of finger, Finger syndactyly, Talipes, Cleft palate, High palate, Clinod... ORPHA:376
Crossed Polysyndactyly
Postaxial hand polydactyly, Abnormality of the philtrum, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:2935
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Elbow dislocation, Phalangeal dislocation, Rhizomelia, Talipes equinovarus ORPHA:85174
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Brachydactyly Type A1
Short hallux, Scoliosis, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shap... ORPHA:93388
Arthrogryposis, Distal, Type 1B
Rocker bottom foot, Camptodactyly, Contractures involving the joints of the feet, Joint contractu... OMIM:614335
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Pierre-Robin sequence, Short distal phalanx o... OMIM:311895
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Abnormality of ... ORPHA:3268
Arthrogryposis, Distal, Type 7
Cutaneous syndactyly of toes, Deep philtrum, Metatarsus adductus, Talipes equinovarus, Hip disloc... OMIM:158300
Multiple Synostoses Syndrome 3
Cubitus valgus, Humeroradial synostosis, Cutaneous syndactyly of toes, Broad thumb, Hallux varus,... OMIM:612961
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Essential Fructosuria
Impairment of fructose metabolism ORPHA:2056
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal ... OMIM:102510
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Scoliosis, Cervical segmentation defect, Elbow dislocati... OMIM:108721
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Cleft palate, Rocker bottom foot OMIM:616570
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Irregularity of vertebral bodies, Cone-shaped epiphyses of the phalanges of the ha... ORPHA:85172
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Ventricular septal defect, Short middle phalanx of finger, Aplas... OMIM:113000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Sacral dimple, Vertebral fusion, Short long bone, Ureteral atresia, Do... OMIM:618845
Sprengel Deformity
Abnormality of the shoulder girdle musculature, Shoulder muscle hypoplasia, Cleft palate, Abnorma... ORPHA:3181
Holzgreve Syndrome
Hand polydactyly, Renal hypoplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate OMIM:236110
Wahab Syndrome
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... OMIM:615170
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, Pes planus, Kyphosis, Knee flexion cont... OMIM:600175
Neuropathy, Hereditary Motor, With Myopathic Features
Scapular winging, Distal upper limb muscle weakness, Proximal muscle weakness in upper limbs, Dis... OMIM:619216
Disorganization, Mouse, Homolog Of
Sacral meningocele, Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip disloc... OMIM:223200
Arthrogryposis, Distal, Type 2B3
Overlapping fingers, Scoliosis, Camptodactyly, Talipes equinovarus, Hallux valgus OMIM:618436
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Hip dysplasia, Talipes equinovarus ORPHA:238578
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Broad palm, Micropenis, Short finger, High palate, Deep philtrum, Wid... OMIM:300209
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect, Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short foot, Talip... ORPHA:52056
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Hyporeflexia of upper limbs, Distal upper limb muscle weakness, Kn... ORPHA:178145
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Overlapping fingers, Talipes equinovarus, Externally rotated hips OMIM:616531
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small thenar eminence, Small hypothenar eminence, Long philtrum, Spina bifida, Mitral valve prola... OMIM:211960
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Long philtrum, Short neck, Narrow mouth, Camptodactyly, High palate... OMIM:277720
Brachydactyly Type A7
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... ORPHA:93397
Hyperekplexia 4
Talipes equinovarus, Camptodactyly, Umbilical hernia, Kyphoscoliosis, High palate, Adducted thumb OMIM:618011
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Type II transferrin isoform profile, Renal insufficiency, Pierre-Robin sequence, Rhizo... OMIM:611209
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contracture, Kyphosc... ORPHA:496689
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Fused thoracic vertebrae, Cleft palate, T... OMIM:618469
Camptodactyly Syndrome, Guadalajara Type 2
Camptodactyly of finger, Short 3rd toe, Cuboid-shaped vertebral bodies, Short 5th toe, Patellar h... ORPHA:1326
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Double-layered pa... ORPHA:93307
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, High palate, Cleft palate, Talipes equinovarus OMIM:614399
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Narrow mouth, Phalangeal dislocation, Broad first metatarsal, Pes pl... OMIM:251450
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip dysplasia, Hyperlordosis, Scapular winging, Achilles tendon contracture, Knee flexion contrac... OMIM:615290
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Syndactyly, Duplication of metatarsal bon... OMIM:600384
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Pes planus, Small epiphyses, High palate, Short femoral neck, Advanced ... OMIM:618363
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Small hand, Short foot, Talipes equinovarus, Hip dislocation OMIM:300434
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Clubbing of fingers, Penile hypospadias, Swan neck-like deformities of the fingers, Penoscrotal h... ORPHA:329252
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Short phalanx of finger, Congenital hip dislocation, Overlapping toe, Ca... OMIM:114300
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Talipes equinovarus, Peroneal muscle atrophy OMIM:181400
Erythema Of Acral Regions
Talipes equinovarus, Abnormality of the dentition OMIM:227000
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Elbow dislocation, Phalangeal dislocation, Camptodactyly, Rhizomelia, S... OMIM:264180
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irr... OMIM:601560
Spastic Paraplegia 33, Autosomal Dominant
Talipes equinovarus, Ankle clonus OMIM:610244
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Talipes equinovarus ORPHA:85338
Charcot-Marie-Tooth Disease, Type 4H
Small thenar eminence, Small hypothenar eminence, Scoliosis, Distal lower limb muscle weakness, P... OMIM:609311
Femoral-Facial Syndrome
Hip dysplasia, Long philtrum, Scoliosis, Short femur, Radioulnar synostosis, Long penis, Preaxial... ORPHA:1988
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Weaver Syndrome
Scoliosis, Camptodactyly of finger, Long philtrum, Broad thumb, Finger syndactyly, Deep philtrum,... ORPHA:3447
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Kyphosis, Congenital bilateral hip dislocation ORPHA:85288
Chromosome 2Q35 Duplication Syndrome
Cutaneous syndactyly, 2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Catel-Manzke Syndrome
Short neck, Ventricular septal defect, Camptodactyly, High palate, Ulnar deviation of the 2nd fin... OMIM:616145
Heart-Hand Syndrome, Slovenian Type
Aplasia of the middle phalanx of the hand, Clinodactyly, Syndactyly, Dilated cardiomyopathy, Brac... OMIM:610140
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Arthrogryposis, Distal, Type 2E
Talipes equinovarus, Joint contractures involving the joints of the feet, Narrow mouth, Joint con... OMIM:121070
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Scoliosis, Congenital hip dislocation, Kyphosis, Hand clenching, Talipes equ... OMIM:618291
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Masa Syndrome
Hyperlordosis, Kyphosis, Pes cavus, Talipes equinovarus, Adducted thumb OMIM:303350
Crisponi/Cold-Induced Sweating Syndrome 2
Cubitus valgus, Limited elbow extension, 2-3 toe syndactyly, Radial deviation of finger, Lumbar h... OMIM:610313
Congenital Disorder Of Glycosylation, Type Iw
Abnormal glycosylation OMIM:615596
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Cleft upper lip, Cleft palate, Talipes equinovarus, Shor... OMIM:613885
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of dental morphology, Abnormal form of the vertebral bodies, Abnormality of the denti... ORPHA:1837
Classic Homocystinuria
Scoliosis, Genu valgum, Dental crowding, Kyphosis, Abnormality of amino acid metabolism, Esophage... ORPHA:394
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Atrial septal defect, Abnormality of epiphysis morphology, Ve... ORPHA:1388
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hyperlordosis, Talipes equinovarus, Abnormal glycosylation OMIM:611588
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Arthrogryposis, Distal, Type 2B1
Scoliosis, Rocker bottom foot, Camptodactyly of finger, Long philtrum, Absent phalangeal crease, ... OMIM:601680
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Arthrogryposis, Distal, Type 1A
Overlapping fingers, Rocker bottom foot, Scoliosis, Congenital hip dislocation, Overlapping toe, ... OMIM:108120
Aspartylglucosaminuria
Scoliosis, Macroglossia, Carious teeth, Abnormal vertebral morphology, Beaking of vertebral bodie... ORPHA:93
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Rocker bottom foot, Scoliosis, Areflexia of lower limbs, High palate, Kyphosis, Ha... OMIM:611890
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Talipes equinovarus, Hyperlordosis, Joint contracture of the hand OMIM:611067
Camptodactyly Syndrome, Guadalajara, Type Ii
Camptodactyly of finger, Short 3rd toe, Talipes equinovarus, Long philtrum, Short neck, Short mid... OMIM:211920
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot, Cleft pa... DECIPHER:46
Bardet-Biedl Syndrome 6
Polydactyly, Hypospadias, Syndactyly, Renal cyst OMIM:605231
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Mental Retardation, Autosomal Recessive 61
Scoliosis, High palate, Pes cavus, Conical tooth, Talipes equinovarus, Tapered finger OMIM:617773
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Finger syndactyly, Synosto... ORPHA:957
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Talipes equinovarus, Upper limb amyotrophy ORPHA:99940
Bardet-Biedl Syndrome 5
Polydactyly, Micropenis, Syndactyly, Brachydactyly OMIM:615983
Prieto X-Linked Mental Retardation Syndrome
Patellar subluxation, Abnormality of the dentition, Radial deviation of finger, Clinodactyly, Tal... OMIM:309610
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Anterior... OMIM:260660
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Camptodactyly, Syndactyly, Joint contracture of the hand, Selective tooth agenesis, M... OMIM:225280
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Charlie M Syndrome
Short philtrum, Thin vermilion border, Narrow mouth, Finger syndactyly, Split hand, Non-midline c... ORPHA:1406
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Vertebral fusion, Finger symphalangism, Carpal synost... OMIM:610017
Lambert Syndrome
Talipes equinovarus, Wide mouth, Hypospadias OMIM:245550
Microtriplication 11Q24.1
Scoliosis, Genu valgum, Short philtrum, Short neck, Irregularly spaced teeth, Smooth philtrum, Cl... ORPHA:289522
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, High palate, Foot... OMIM:206920
Moebius Syndrome
Short phalanx of finger, Split hand, Camptodactyly, Micropenis, High palate, Aplasia/Hypoplasia i... OMIM:157900
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Oligodontia, Abnormal vertebral morphology, Spina bifida occulta... OMIM:601829
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Split foot, Toe syndactyly, Cleft palate OMIM:183700
Charcot-Marie-Tooth Disease, Type 4B1
Scoliosis, Talipes equinovarus OMIM:601382
Tyrosinemia Type 2
Abnormality of amino acid metabolism, Palmoplantar keratoderma ORPHA:28378
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Advanced ossification of carpal bones, Long upper lip, Cleft palate, Kyphoscoliosi... OMIM:615349
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Mucopolysaccharidosis, Type Vii
Scoliosis, Anterior beaking of lumbar vertebrae, Metatarsus adductus, Acetabular dysplasia, Proxi... OMIM:253220
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Pes planus... OMIM:223800
Spinocerebellar Ataxia, Autosomal Recessive 20
Scoliosis, Long philtrum, Macroglossia, Delayed eruption of teeth, Dental crowding, Camptodactyly... OMIM:616354
Arthrogryposis, Distal, Type 4
Scoliosis, Camptodactyly, Deviation of the 2nd toe, Fibular deviation of toes, Tibial deviation o... OMIM:609128
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormal vertebral morphology, Abnormality of epiphysis morphology, Rhizomelia, He... ORPHA:35173
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Smooth philtrum, Hemivertebrae, Thin upper lip vermilion, Syndactyly, Cleft palate... OMIM:614701
Hypertelorism And Tetralogy Of Fallot
Long philtrum, Tetralogy of Fallot with absent pulmonary valve, Spina bifida occulta, Hypospadias... OMIM:239711
2Q32Q33 Microdeletion Syndrome
Long philtrum, Thin vermilion border, Oligodontia, Broad thumb, Narrow mouth, Dental crowding, Br... ORPHA:251019
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Talipes equinovarus OMIM:208100
Arthrogryposis, Distal, Type 5D
Scoliosis, Hyperlordosis, Short neck, Camptodactyly, Adducted thumb, Furrowed tongue, Calcaneoval... OMIM:615065
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Abnormality of the knee, Preaxial hand polydactyly, Short neck, Abnorm... ORPHA:3098
Chromosome 15Q26-Qter Deletion Syndrome
Short middle phalanx of finger, Micropenis, Hypospadias, Talipes equinovarus, Abnormal cardiac se... OMIM:612626
Maxillonasal Dysplasia
Open bite, Scoliosis, Patchy distortion of vertebrae, Tooth agenesis, Short distal phalanx of fin... ORPHA:1248
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Intestinal malrotation, Postaxial polydactyly, Hamartoma of tongue, Short digit, Micro... OMIM:613091
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Short neck, Renal hypoplasia, 2-3 toe syndactyly, Brachydactyly, Renal cyst, Cutaneous syndactyly... OMIM:236500
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Abnormal hand bone ossification, Abnormal foot... OMIM:300244
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Thin upper lip ve... OMIM:617866
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Spastic Paraplegia 50, Autosomal Recessive
Short philtrum, Drooling, High palate, Wide mouth, Talipes equinovarus, Adducted thumb OMIM:612936
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Hip dislocation OMIM:616756
Roussy-Lévy Syndrome
Scoliosis, Genu valgum, Urinary bladder sphincter dysfunction, Intrinsic hand muscle atrophy, Pes... ORPHA:3115
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Patellar subluxation, Congenital finger flexion contractures, Pes planu... ORPHA:536516
Charcot-Marie-Tooth Disease, Type 4B2
Split hand, Pes cavus, Ulnar claw, Kyphoscoliosis, Talipes equinovarus, Hammertoe OMIM:604563
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... OMIM:609432
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
1Q21.1 Microduplication Syndrome
Hip dysplasia, Tetralogy of Fallot, Hypospadias, Talipes equinovarus, Hip dislocation ORPHA:250994
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Bowing of th... OMIM:249710
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, Hyperlordosi... OMIM:184250
Spastic Paraplegia 47, Autosomal Recessive
Short philtrum, Genu recurvatum, Pes planus, High palate, Wide mouth, Acetabular dysplasia, Talip... OMIM:614066
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Talipes equinovarus, Split hand, Kyphoscoliosis OMIM:607831
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Delayed pubic bone ossification, Atlantoaxial instability, Platyspondyly, Pierre-Robin... OMIM:183900
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Broad thumb, Ventricular septal defect, 2-3 toe syndactyly, Tented upper li... OMIM:600987
Bruck Syndrome 1
Scoliosis, Platyspondyly, Protrusio acetabuli, Kyphosis, Coxa vara, Knee flexion contracture, Tal... OMIM:259450
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Hemivertebrae, Metatarsus adductus,... ORPHA:93322
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Triangular tongue, Dilated cardiomyopathy, Talipes equinovarus, Calf muscle hypertr... OMIM:616827
Aarskog-Scott Syndrome
Pes planus, Oral cleft, Short neck, Broad foot, Long philtrum, Genu recurvatum, Abnormal vertebra... ORPHA:915
Orofaciodigital Syndrome V
Scoliosis, Postaxial hand polydactyly, Horseshoe kidney, Aganglionic megacolon, Cleft palate, Lob... OMIM:174300
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Spastic Paraplegia 64, Autosomal Recessive
Talipes equinovarus OMIM:615683
Mehmo Syndrome
Downturned corners of mouth, Micropenis, Thick vermilion border, Hypoplasia of penis, Talipes equ... ORPHA:85282
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... ORPHA:370010
Lethal Kniest-Like Dysplasia
Platyspondyly, Atrial septal defect, Coronal cleft vertebrae, Mesomelic/rhizomelic limb shortenin... ORPHA:2347
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Meckel Syndrome, Type 9
Talipes equinovarus, Limb undergrowth, Multicystic kidney dysplasia OMIM:614209
Holt-Oram Syndrome
Secundum atrial septal defect, Partial duplication of thumb phalanx, Absent radius, Short clavicl... OMIM:142900
Pelvis-Shoulder Dysplasia
Dislocated radial head, Camptodactyly of finger, Spina bifida, Mesomelic/rhizomelic limb shorteni... ORPHA:2839
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Scoliosis, Talipes equinovarus, Pes cavus, Ulnar claw OMIM:608340
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Aminopterin Syndrome Sine Aminopterin
Oligodontia, Umbilical hernia, Rudimentary postaxial polydactyly of hands, Clinodactyly, Syndacty... OMIM:600325
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Contractural Arachnodactyly, Congenital
Scoliosis, Camptodactyly, Metatarsus adductus, Congenital kyphoscoliosis, Wrist flexion contractu... OMIM:121050
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Metaphy... OMIM:616716
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hip dysplasia, Hydroureter, Pyloric stenosis, Vesicoureteral reflux, Talipes equinovarus, Clinoda... OMIM:617219
Nevus Comedonicus Syndrome
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... ORPHA:64754
Crisponi/Cold-Induced Sweating Syndrome 1
Limited elbow extension, Carious teeth, Long philtrum, Short neck, Narrow mouth, Pes planus, Camp... OMIM:272430
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Broad thumb, Intestinal malrotation, Syndactyly, Increased overbite... OMIM:613684
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Mesomelic Dysplasia, Nievergelt Type
Scoliosis, Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostos... ORPHA:2633
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Broad thumb, Absent radius, Phocomelia, Genu varum, Cleft palate, Tetralogy of Fallot,... ORPHA:3320
Spastic Paraplegia 45, Autosomal Recessive
Talipes equinovarus OMIM:613162
Rosselli-Gulienetti Syndrome
Cutaneous syndactyly of toes, Abnormality of the philtrum, Hypodontia, Anodontia, Cutaneous finge... OMIM:225000
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis, Scapular winging, Narrow mouth, Abnormal heart valve morphology, High palate, Pes ... ORPHA:169186
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Narrow mouth, Bowing of the long bones, Short long bone, Talipes equinovarus OMIM:224410
Congenital Disorder Of Glycosylation, Type Iih
Scoliosis, Type II transferrin isoform profile, Finger clinodactyly, Bilateral coxa valga, Clinod... OMIM:611182
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Short philtrum, Absent forearm, Overlapping toe, Narrow mouth, High palate, Fibular... OMIM:201170
Filippi Syndrome
Thin vermilion border, Short philtrum, Abnormality of dental morphology, Finger clinodactyly, Ven... OMIM:272440
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Slender finger, Long toe, Bicuspid aortic valve, Talipes equinovarus, Long ... OMIM:613355
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, Narrow mouth, Abnormality of the vertebral column, Abnormal vertebral morp... OMIM:239800
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asym... OMIM:608571
17Q12 Microduplication Syndrome
Atrial septal defect, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Cleft pal... ORPHA:261272
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Long philtrum, Narrow mouth, Mitral valve prolapse, Dental crowding, Camptodactyly, High palate, ... OMIM:615539
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Talipes equinovarus OMIM:616486
Hypomelanosis Of Ito
Scoliosis, Hand polydactyly, Irregularly spaced teeth, Kyphosis, Radial deviation of finger, Clin... OMIM:300337
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thumb, Deep ph... OMIM:605282
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Poorly ossified vertebrae, Fing... ORPHA:1263
Marden-Walker Syndrome
Scoliosis, Long philtrum, Short neck, Radioulnar synostosis, Narrow mouth, Renal hypoplasia, Camp... OMIM:248700
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome
Bilateral talipes equinovarus, Movement abnormality of the tongue, Abnormality of finger ORPHA:2560
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the dentition, Syndactyly, Renal cyst, Brachydactyly OMIM:615982
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Scoliosis, Long philtrum, Abnormal thumb morphology, Finger syndactyly, Deep philtrum, Wide mouth... ORPHA:1825
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Scapular winging, High palate, Kyphosis, Pes cavus, Talipes equinovarus OMIM:255200
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis... ORPHA:2319
Limb-Mammary Syndrome
Split hand, Camptodactyly, Hypodontia, Syndactyly, Split foot, Joint contracture of the hand, Cle... OMIM:603543
Congenital Heart Defects And Ectodermal Dysplasia
Scoliosis, Broad thumb, Premature loss of primary teeth, Syndactyly, Microdontia, Widely spaced t... OMIM:617364
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Elbow dislocation, Synostosis of carp... ORPHA:90650
Keratoconus Posticus Circumscriptus
Short neck, Vesicoureteral reflux, Limited elbow extension and supination, Cleft upper lip, Cleft... OMIM:244600
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Congenital Disorder Of Glycosylation, Type Ih
Long philtrum, Abnormal heart morphology, Camptodactyly, Protein-losing enteropathy, Abnormal iso... OMIM:608104
Aase-Smith Syndrome I
Open mouth, Ventricular septal defect, Slender finger, Cleft palate, Talipes equinovarus OMIM:147800
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Camptodactyly of finger, High palate, Clinodactyly, Talipes equinovarus, Tapered finger, Short palm ORPHA:85279
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Sillence Syndrome
Scoliosis, Large iliac wing, Broad thumb, Abnormal proximal phalanx morphology of the hand, Campt... ORPHA:3168
Perrault Syndrome 1
Scoliosis, Talipes equinovarus, High palate, Pes cavus OMIM:233400
Prune Belly Syndrome
Scoliosis, Renal insufficiency, Atrial septal defect, Urogenital sinus anomaly, Congenital hip di... ORPHA:2970
Ehlers-Danlos Syndrome, Classic Type, 2
Talipes equinovarus, Congenital hip dislocation OMIM:130010
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate OMIM:612913
Ritscher-Schinzel Syndrome 2
Scoliosis, Short philtrum, Atrial septal defect, Overlapping toe, Ventricular septal defect, Camp... OMIM:300963
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Thick lower lip vermilion, Dental crowding, Long palm, Narrow palm, Long fingers,... OMIM:309583
Tarp Syndrome
Deep palmar crease, Hypoplasia of the radius, Horseshoe kidney, Tongue nodules, High palate, Shor... OMIM:311900
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Ventricular hypertrophy, Short phalanx of finger, Elbow dislocation, Pes planus, Bilat... OMIM:143095
Congenital Disorder Of Glycosylation, Type Id
Type I transferrin isoform profile, High palate, Villous atrophy, Clinodactyly of the 5th toe, Cl... OMIM:601110
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Patellar subluxation, Finger clinodactyly, Abnormal number of incisors, Bilateral talipes equinov... ORPHA:2958
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Long philtrum, Narrow palate, Short neck, Ventricular septal defect, High pa... OMIM:617022
Monosomy 5P
Scoliosis, Finger syndactyly, Small hand, High palate, Short neck ORPHA:281
Early-Onset Schizophrenia
Abnormal emotion/affect behavior, Diminished motivation, Anhedonia, Emotional lability, Irritabil... ORPHA:96369
Acrorenal Syndrome
Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Cleft palate, Abno... ORPHA:971
Contractures-Developmental Delay-Pierre Robin Syndrome
Hip dysplasia, Atrial septal defect, Abnormality of finger, Radioulnar synostosis, Overlapping to... ORPHA:436003
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Scapular winging, Dental crowding, Camptodactyly, High palate, Internally rotated shoulders, Knee... OMIM:617468
Freeman-Sheldon Syndrome
Scoliosis, Camptodactyly of finger, Long philtrum, Narrow mouth, Abnormality of the dentition, Ab... ORPHA:2053
Cystathioninuria
Talipes equinovarus, Nephrolithiasis, Cystathioninuria ORPHA:212
Rahman Syndrome
Talipes equinovarus, Camptodactyly, Kyphoscoliosis OMIM:617537
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Scoliosis, Talipes equinovarus OMIM:616155
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Talipes equinovarus, Abnormal foot morphology OMIM:613710
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Chromosome 1Q41-Q42 Deletion Syndrome
Talipes equinovarus, Vertebral segmentation defect, Cleft upper lip, Cleft palate OMIM:612530
Orofaciodigital Syndrome Viii
Polydactyly, Syndactyly, Cleft palate, High palate, Short tibia, Median cleft lip OMIM:300484
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Solitary median maxillary central incisor, Hand oligodactyly... OMIM:602418
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... ORPHA:93409
Kniest-Like Dysplasia, Lethal
Platyspondyly, Atrial septal defect, Narrow mouth, Metaphyseal irregularity, Coronal cleft verteb... OMIM:245190
Inverted Duplicated Chromosome 15 Syndrome
Short philtrum, Drooling, Ventricular septal defect, High palate, 2-3 toe syndactyly, Unilateral ... ORPHA:3306
Microphthalmia With Limb Anomalies
Thin vermilion border, Broad thumb, Tarsal synostosis, Elbow dislocation, Bilateral single transv... ORPHA:1106
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... OMIM:611377
Charcot-Marie-Tooth Disease Type 4G
Scoliosis, Distal upper limb muscle weakness, Pes valgus, Upper limb amyotrophy, Pes cavus, Dista... ORPHA:99953
Crane-Heise Syndrome
Toe syndactyly, Finger syndactyly, Hypoplastic scapulae, Short distal phalanx of finger, Cleft pa... ORPHA:1512
Nail-Patella Syndrome
Scoliosis, Hematuria, Pes planus, Iliac horns, Renal insufficiency, Quadriceps aplasia, Limited e... OMIM:161200
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Urethral obstruction, Renal hypoplasia, Anal atresia, Thoracolumbar sc... OMIM:601389
Nescav Syndrome
Talipes equinovarus OMIM:614255
Schwartz-Jampel Syndrome, Type 1
Pursed lips, Platyspondyly, Congenital hip dislocation, Narrow mouth, Coronal cleft vertebrae, Pe... OMIM:255800
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Talipes equinovarus, Kyphosis, Adducted thumb OMIM:618484
Peroxisome Biogenesis Disorder 7A (Zellweger)
Talipes equinovarus, High palate, Epiphyseal stippling, Long philtrum OMIM:614872
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Finger syndactyly, Synostosis of carpal bones, Elbow ... ORPHA:3250
Nail-Patella Syndrome
Enamel hypoplasia, Scoliosis, Abnormality of tibia morphology, Hematuria, Pes planus, Abnormality... ORPHA:2614
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebra... ORPHA:2635
Atelosteogenesis, Type I
Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant chondrocytes in... OMIM:108720
Mohr Syndrome
Scoliosis, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue, High palate, M... OMIM:252100
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Low levels of vitamin E, Abnormality of amino acid metabolism, Esophageal varix, Hypertrophic car... ORPHA:309854
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad thumb, Narrow mouth, Dental crowding, High palate, Short neck, Micropenis, Long philtrum, S... ORPHA:251028
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Postaxial polydactyly, Short distal phalanx of finger, Flat acetabular roof, High pa... OMIM:614091
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of ... ORPHA:2141
Teebi-Shaltout Syndrome
Rocker bottom foot, Oligodontia, Horseshoe kidney, Narrow mouth, Ventricular septal defect, Campt... OMIM:272950
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Long philtrum, Short philtrum, Narrow mouth, Downturned corners of mouth, Camptodactyly, Wide mou... OMIM:617333
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Atrial septal defect, Ventricular septal defect, Preaxial polydactyly, Unila... OMIM:618142
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Abnormal form of the vertebral bodies, Limb undergrowth, Ab... ORPHA:3429
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Short phalanx of finger, Narrow mouth, Aplasia of the epiglottis, Acetabular dys... OMIM:268305
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Mesomelia, Hypoplasia of the uln... OMIM:228940
Kbg Syndrome
Scoliosis, Long philtrum, Oligodontia, Finger clinodactyly, Thoracic kyphosis, Congenital malform... ORPHA:2332
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Pericardial effusion, Bilater... OMIM:235510
Wieacker-Wolff Syndrome
Scoliosis, Long philtrum, Hyperlordosis, Drooling, Camptodactyly, High palate, Kyphosis, Smooth p... OMIM:314580
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Absent radius, Triphalangeal thumb, Hallux valgus, Limited elbow extension, Hypoplasia... OMIM:154400
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Open mouth, Everted lower lip vermilion, Wide mouth, Clinodactyly, Patent foramen o... OMIM:616789
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Talipes equinovarus, Ventricular septal defect OMIM:209770
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Scoliosis, Tarsal synostosis, Pes planus, C2-C3 subluxation, Abnormality of pe... OMIM:272460
Scapuloperoneal Spinal Muscular Atrophy
Hip dysplasia, Scoliosis, Hyperlordosis, Scapular winging, Peroneal muscle atrophy, Kyphosis, Per... OMIM:181405
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Postaxial hand polydactyly, Delayed eruption of teeth, Atrial s... OMIM:225500
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Dens... OMIM:263540
Holt-Oram Syndrome
Scoliosis, Anomalous pulmonary venous return, Atrial septal defect, Broad thumb, Radioulnar synos... ORPHA:392
Poland Syndrome
Hypoplasia of deltoid muscle, Hemivertebrae, Unilateral brachydactyly, Dextrocardia, Syndactyly, ... OMIM:173800
Oculofaciocardiodental Syndrome
Scoliosis, Oligodontia, Flexion contracture of the 2nd toe, Intestinal malrotation, Solitary medi... ORPHA:2712
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Hemivertebrae, Pulmonic stenosis, Aortic valve s... OMIM:220210
Spastic Paraplegia 55, Autosomal Recessive
Talipes equinovarus OMIM:615035
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral morph... OMIM:314390
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Palmoplantar keratoderma, Finger syndactyly, Abnormality of dental morph... ORPHA:2251
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Long philtrum, Macroglossia, Atrial septal defect, Dental crowding, Camptodactyly, High palate, O... ORPHA:397709
Larsen Syndrome
Scoliosis, Short metatarsal, Elbow dislocation, Spina bifida occulta, Multiple carpal ossificatio... OMIM:150250
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micropenis, High palate, Diastema, Large hands, Smooth philtrum, Short distal phalanx of finger, ... OMIM:300534
Jaberi-Elahi Syndrome
Scoliosis, Talipes, Kyphosis, Abnormality of the dentition, Triangular mouth, Hand clenching, Tal... OMIM:617988
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Ureteral atresia, Split foot, Hydronephrosis, Thoracolum... OMIM:183802
Nievergelt Syndrome
Genu valgum, Tarsal synostosis, Radioulnar synostosis, Mesomelia, Talipes equinovarus, Metatarsal... OMIM:163400
Laing Early-Onset Distal Myopathy
Scoliosis, Talipes cavus equinovarus, Dilated cardiomyopathy, High palate, Abnormality of the cal... ORPHA:59135
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Abnormality of amino acid metabolism ORPHA:220295
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Palmoplantar keratoderma, Thin upper lip vermilion, Syndactyly, Cardiomegaly OMIM:613576
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Dental crowding, Pes planus, Flat ace... OMIM:615777
Atelosteogenesis Type Iii
Elbow dislocation, Club-shaped distal femur, Absent radius, High palate, Coronal cleft vertebrae,... ORPHA:56305
Carey-Fineman-Ziter Syndrome
Scoliosis, Glandular hypospadias, Thin vermilion border, Long philtrum, Pierre-Robin sequence, Hi... ORPHA:1358
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Toe syndactyly, Postaxial hand polydactyly, Broad thumb, Finger syndac... ORPHA:380
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Non-midline cleft lip, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Caudal Regression Sequence
Scoliosis, Renal insufficiency, Abnormal iliac wing morphology, Abnormality of the ureter, Oral c... ORPHA:3027
Achondrogenesis Type 1B
Long philtrum, Umbilical hernia, Short foot, Talipes equinovarus, Short neck, Micromelia ORPHA:93298
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Dental crowding, High palate, Narrow foot, Ulnar bowing, High, narrow pa... OMIM:600920
Mosaic Trisomy 9
Scoliosis, Elbow dislocation, Intestinal malrotation, Hemivertebrae, Dextrocardia, High palate, S... ORPHA:99776
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Scoliosis, Long philtrum, Atrial septal defect, Broad thumb, Toe syndactyly, Overlapping toe, Sho... ORPHA:505237
Eem Syndrome
Carious teeth, Abnormality of dental morphology, Finger syndactyly, Widely spaced teeth, Selectiv... ORPHA:1897
Wieacker-Wolff Syndrome, Female-Restricted
Scoliosis, Rocker bottom foot, Radial deviation of the hand, Long philtrum, Drooling, Downturned ... OMIM:301041
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic sacrum, Atrial septal defect, Talipes, Renal hypoplasia, Spinal dysraphism, Absence o... OMIM:617660
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyly, Pate... OMIM:119800
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Diabetic ketoacidosis, ... ORPHA:99886
Constricting Bands, Congenital
Scoliosis, Hand polydactyly, Ectopia cordis, Syndactyly, Bladder exstrophy, Cleft palate, Cleft u... OMIM:217100
Galloway-Mowat Syndrome 7
Cubitus valgus, Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Ventricular septal de... OMIM:618348
Chromosome 18Q Deletion Syndrome
Scoliosis, Downturned corners of mouth, Pes planus, Absence of the pulmonary valve, Short neck, M... OMIM:601808
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Isolated Cloverleaf Skull Syndrome
Abnormal form of the vertebral bodies, Finger syndactyly ORPHA:2343
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Shortening of all phalanges of fingers, Mesomelia, Limb undergrowth, Shortening of... OMIM:601356
Prune Belly Syndrome
Congenital hip dislocation, Hydroureter, Urethral valve, Abnormal heart morphology, Xerostomia, A... OMIM:100100
Arthrogryposis, Distal, Type 2A
Pursed lips, Scoliosis, Narrow mouth, Dental crowding, Camptodactyly, Wrist flexion contracture, ... OMIM:193700
Larsen-Like Syndrome
Radial deviation of the 4th finger, Kyphoscoliosis, Cleft palate, Talipes equinovarus, Dental mal... OMIM:608545
Saul-Wilson Syndrome
Talipes equinovarus, Platyspondyly, Short metatarsal, Short distal phalanx of finger, Flared meta... OMIM:618150
Carey-Fineman-Ziter Syndrome
Scoliosis, Pierre-Robin sequence, Pectoralis hypoplasia, Microglossia, Glossoptosis, Cleft palate... OMIM:254940
Martsolf Syndrome 1
Short philtrum, Tooth malposition, Short phalanx of finger, High palate, Cardiomyopathy, Slender ... OMIM:212720
Arthrogryposis, Distal, Type 5
Scoliosis, Limited wrist extension, Absent phalangeal crease, Congenital finger flexion contractu... OMIM:108145
Central Core Disease
Congenital hip dislocation, Mitral valve prolapse, Pes planus, Kyphoscoliosis, Talipes equinovarus ORPHA:597
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Flared iliac wing, Pes planus, Ovoid vertebral bodies, Metatar... OMIM:271640
Ring Chromosome 21 Syndrome
Scoliosis, Abnormal heart morphology, Narrow palm, Fused thoracic vertebrae, Thoracic hemivertebr... ORPHA:1445
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Anterior clefting of vertebral bodies, Narrow mouth, Downturned corners of mouth, High... OMIM:265000
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Bowing of the long bones, Non-midline cleft lip, Sandal gap, Abnormal hip ... ORPHA:2725
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Hyperlordosis, Pes planus, Kyphosis, Bladder diverticulum, Talipes equinovarus, Hip di... OMIM:617821
Chromosome 13Q33-Q34 Deletion Syndrome
Open mouth, Camptodactyly, Short thumb, High palate, Small thenar eminence, Anal atresia, Cleft l... OMIM:619148
Pfeiffer Syndrome
Hip dysplasia, Hyperlordosis, Short philtrum, Broad thumb, Short neck, Open mouth, Synostosis of ... ORPHA:710
Acromelic Frontonasal Dysostosis
Polydactyly, Preaxial polydactyly, Syndactyly, U-Shaped upper lip vermilion, Cleft upper lip, Cle... OMIM:603671
Myopathy, Myofibrillar, 7
Scoliosis, Shoulder flexion contracture, Thoracic kyphosis, Achilles tendon contracture, Urinary ... OMIM:617114
Arthrogryposis, Distal, With Impaired Proprioception And Touch
Hip dysplasia, Scoliosis, Pes planus, Camptodactyly, High palate, Sandal gap, Thin upper lip verm... OMIM:617146
Split-Hand/Foot Malformation 3
Narrow mouth, Renal hypoplasia, Split hand, Camptodactyly, Cleft palate, High palate OMIM:246560
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Short neck, Finger syndactyly, Abnormality of the dentition, Short dista... ORPHA:2994
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular sep... ORPHA:477817
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Fibular bow... ORPHA:1427
Acrodysplasia Scoliosis
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Tongue nodules, Preaxial ... OMIM:277170
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Cystic renal dysplasia, Enlarged kidney, Pulmonic ste... OMIM:615415
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormality of the vertebral column, Ventricular septal defect, Cervical... ORPHA:2345
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Short neck, Narrow mouth, Forearm undergrowth, Absent radi... OMIM:251230
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Abnormal form of the vertebral bodies, Aplasia/Hypoplas... ORPHA:1788
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, Myelomeningocele, 1-2 finger syndactyly, Congenital megauret... ORPHA:2437
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Long philtrum, Platyspondyly, Finger syndactyly, Abnormal heart valve morphology, D... ORPHA:1517
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Anisospondyly, Narrow mouth, Abnormal heart morphology, Broad long bones, Hy... ORPHA:1865
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Scoliosis, Atrial septal defect, Patent foramen ovale, Overlapping toe, Vent... OMIM:618316
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Ventricular septal defect, Smooth phi... OMIM:616730
6P22 Microdeletion Syndrome
Finger syndactyly, Abnormal palate morphology, Clinodactyly, Hydronephrosis, Short neck ORPHA:251046
Diaphanospondylodysostosis
Multiple renal cysts, Myelomeningocele, Absent or minimally ossified vertebral bodies, Abnormal v... ORPHA:66637
Charcot-Marie-Tooth Disease, Type 4B3
Urinary incontinence, Scoliosis, Syndactyly, Pes planus OMIM:615284
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Broad long bones, Short long bone, Cleft palate, Flared metaphysis, Delayed epiphy... OMIM:601561
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Thin vermilion border, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing,... OMIM:609945
3C Syndrome
Scoliosis, Intestinal malrotation, Hemivertebrae, Oral cleft, High, narrow palate, Short neck, Ab... ORPHA:7
Slc35A2-Cdg
Scoliosis, Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Transie... ORPHA:356961
Blepharophimosis-Impaired Intellectual Development Syndrome
Hip dysplasia, Enamel hypoplasia, Short philtrum, Scoliosis, Drooling, Pes planus, Enuresis, Wide... OMIM:619293
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Narrow mouth, Short distal phalanx of finger... OMIM:311300
Moebius Syndrome
Absent hand, Open mouth, Finger syndactyly, High palate, Everted lower lip vermilion, Aplasia of ... ORPHA:570
Barth Syndrome
Talipes equinovarus, Endocardial fibroelastosis, Dilated cardiomyopathy, Organic aciduria, 3-Meth... OMIM:302060
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Split hand, Carpal bone hypoplasia, Ovoid vertebral bodies, Beaking of vertebr... OMIM:252500
Weaver Syndrome
Scoliosis, Broad thumb, Camptodactyly, Metatarsus adductus, Prominent fingertip pads, Limited elb... OMIM:277590
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Short philtrum, Rhizomelia, Short humerus, Sandal gap, Thi... OMIM:607143
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Overlapping fingers, Camptodactyly, Limb undergrowth, Joint contracture of the hand, Cleft palate... OMIM:601016
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Scoliosis, Short philtrum, Atrial septal defect, Open mouth, Ventricular septal defect, Camptodac... OMIM:301039
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Scoliosis, Long philtrum, Atrial septal defect, Broad thumb, Overlapping toe, Ventricular septal ... OMIM:617452
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Narrow mouth, Pes planus, Sandal gap, Shoulder dislocation, Metatarsus adductus, Cardi... OMIM:245600
Dystonia, Dopa-Responsive
Scoliosis, Talipes equinovarus, Pes cavus OMIM:128230
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Scapulohumeral synostosis, Narrow mouth, Rhizomelia, Hypoplastic scapulae... OMIM:602471
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Cenani-Lenz Syndrome
Oligodactyly, Scoliosis, Hypoplasia of the radius, Crossed fused renal ectopia, Toe syndactyly, R... ORPHA:3258
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Abnormal heart morphology, Hy... OMIM:114290
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Synostosis of carpal bones, Abnormal f... ORPHA:3238
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Broad thumb, 1-3 toe syndactyly, Camptodac... OMIM:175700
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Taurodontia, Finger syndactyly, Rhizomelia, Everted lower lip ... ORPHA:1515
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Tarsal synostosis, Narrow mouth, Renal hypoplasia, High palate, Aplasia/Hypoplasia ... ORPHA:1307
Kbg Syndrome
Long philtrum, Oligodontia, Thoracic kyphosis, Radial deviation of finger, Vertebral fusion, Clin... OMIM:148050
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Widely-spaced maxillary central incisors, Ventricular septal defect, Micropenis, Um... OMIM:301040
Bruck Syndrome
Scoliosis, Platyspondyly, Kyphosis, Bowing of the long bones, Talipes equinovarus