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 circulating glucose level Haaotm2b(KOMP)Mbp HOM Early adult 3.22×10-08
increased bone mineral content Haaotm2b(KOMP)Mbp HOM Early adult 6.51×10-05

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 0.77% (4 of 517)
aorta 0.19% (1 of 522)
blood 0.0%
bone marrow 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cecum 3.37% (11 of 326)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
chest bone Unavailable
colon 10% (11 of 110)
diaphragm 0.0%
duodenum 1.87% (2 of 107)
epididymis 12.39% (14 of 113)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.2% (1 of 510)
hindlimb 0.0%
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
ileum 11.3% (13 of 115)
jejunum 3.81% (4 of 105)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.2% (1 of 512)
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
stomach pyloric region 0.0%
striatum 0.39% (2 of 510)
sublingual gland 0.0%
submandibular gland 0.85% (1 of 117)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
tongue 4.72% (5 of 106)
trachea 0.59% (3 of 510)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.48% (12 of 345)
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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

8 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
Bifid uvula, Talipes, Hypoplastic sacrum, Atrial septal defect, Renal hypoplasia, Spinal dysraphi... 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
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal cardiac septum morpho... ORPHA:294975
Arthrogryposis, Distal, Type 2B2
Brachydactyly, Clinodactyly, Narrow mouth, Sandal gap, Overlapping fingers, Tapered finger, Broad... OMIM:618435
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb, Talipes equinovarus OMIM:613681
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Metacarpophalangeal joint contracture, Short neck, Rocker... OMIM:619110
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Clinodactyly o... ORPHA:3104
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Brachydactyly, Type A1, C
Bilateral talipes equinovarus, Brachydactyly, Short middle phalanx of the 4th finger, Short middl... OMIM:615072
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Brachydactyly Type A4
Shortening of all middle phalanges of the toes, Symphalangism affecting the phalanges of the hand... ORPHA:93394
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Hip dysplasia, Cleft palate, Long upper lip, Hip dislocation, High palate, Abnormality... ORPHA:93359
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Small thenar eminence, Small hypothenar eminence, T... OMIM:185750
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Aase-Smith Syndrome
Slender finger, Abnormal hip bone morphology, Scoliosis, Camptodactyly of finger, Talipes equinov... ORPHA:916
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand... OMIM:201020
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Coxa valga, Talipes equinovarus, Genu valgum, Hip dysplasia, Acetabular dysplasia OMIM:613618
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:1891
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Kyphoscoliosis, Hypoplastic cervical... OMIM:222600
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Atrial septal defect, Postaxial oligodactyly, Sh... ORPHA:52056
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Nemaline Myopathy 11, Autosomal Recessive
High palate, Pes cavus, Cardiomyopathy, Talipes equinovarus, Scapular winging OMIM:617336
Fructose And Galactose Intolerance
Galactose intolerance, Fructose intolerance OMIM:229500
Gordon Syndrome
High palate, Talipes, Finger syndactyly, Clinodactyly of the 5th finger, Scoliosis, Camptodactyly... ORPHA:376
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Hypoplasia of pe... ORPHA:2935
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Abnormality of pelvic girdle bone morphology, Short n... OMIM:256050
Pseudodiastrophic Dysplasia
Rhizomelia, Elbow dislocation, Platyspondyly, Scoliosis, Talipes equinovarus, Phalangeal dislocation ORPHA:85174
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... ORPHA:93388
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Arthrogryposis, Distal, Type 1B
Contractures involving the joints of the feet, Rocker bottom foot, Camptodactyly, Talipes equinov... OMIM:614335
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Clinodactyly of the 5th finger, Tapered finger, Short distal phalanx of fi... OMIM:311895
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Broad hallux, Cubitus valgus, Humeroradial synostosis, Broad th... OMIM:612961
Arthrogryposis, Distal, Type 7
Hammertoe, Deep philtrum, Metatarsus adductus, Cutaneous syndactyly of toes, Talipes equinovarus,... OMIM:158300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of the philtrum, Radioulnar synost... ORPHA:3268
Essential Fructosuria
Impairment of fructose metabolism ORPHA:2056
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Spina bifida occulta at S1, Finger syndactyly, Bifid ... OMIM:102510
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Atelosteogenesis, Type Iii
Cervical kyphosis, Cervical segmentation defect, Short neck, Hitchhiker thumb, Widened distal pha... OMIM:108721
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Sacral dimple, Ureteral atresia, Double outlet right ventricle, Talipe... OMIM:618845
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Short palm, Cone-shaped epiphyses of the phalanges of the hand,... ORPHA:85172
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Camptodactyly, Short foo... OMIM:615170
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Sprengel Deformity
Shoulder muscle hypoplasia, Short neck, Abnormality of the shoulder girdle musculature, Cleft pal... ORPHA:3181
Holzgreve Syndrome
Cleft upper lip, Renal hypoplasia, Hand polydactyly, Hypoplastic left heart, Cleft palate OMIM:236110
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Talipes equinovarus, Cleft palate OMIM:616570
Arthrogryposis, Distal, Type 2B3
Overlapping fingers, Talipes equinovarus, Scoliosis, Hallux valgus, Camptodactyly OMIM:618436
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Elbow flexion contracture, Proximal lower limb amyotrophy, Pes planus, Hyperlordosis, K... OMIM:600175
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Pes cavus, Tongue fas... OMIM:619216
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Talipes equinovarus, Hip dysplasia ORPHA:238578
Disorganization, Mouse, Homolog Of
Cleft upper lip, Sacral meningocele, Hand polydactyly, Limb duplication, Cleft palate, Hip disloc... OMIM:223200
Simpson-Golabi-Behmel Syndrome, Type 2
Clinodactyly, High palate, Single transverse palmar crease, Short neck, Micropenis, Broad palm, T... OMIM:300209
Moderate Multiminicore Disease With Hand Involvement
Hyporeflexia of upper limbs, Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Re... ORPHA:178145
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Dermatoglyphic ridges abnormal, Small thenar eminence, Small hypothenar eminence, Long philtrum, ... OMIM:211960
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Syndactyly Type 3
Camptodactyly of finger, Finger syndactyly, Short toe ORPHA:93404
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, High palate, Abnormal isoelectric focusing of serum transferrin, Butterfly... OMIM:611209
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Triangu... ORPHA:93397
Hyperekplexia 4
High palate, Adducted thumb, Talipes equinovarus, Camptodactyly, Kyphoscoliosis, Umbilical hernia OMIM:618011
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tongue atrophy, Knee flexion contracture, Upper limb amy... ORPHA:496689
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Short neck, Elbow flexion contracture, Long philtrum, Knee flexion con... OMIM:277720
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Camptodactyly Syndrome, Guadalajara Type 2
Patellar hypoplasia, Short 3rd toe, Short 5th toe, Talipes equinovarus, Cuboid-shaped vertebral b... ORPHA:1326
Brachydactyly, Type A2
Short 2nd finger, Ulnar deviation of the 2nd finger, 2-3 toe syndactyly, Medially deviated second... OMIM:112600
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... ORPHA:93307
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Fused thoracic vertebrae, Scoliosis, Fused cervical vertebrae, Tarsal synostosis, Tal... OMIM:618469
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Kyphoscoliosis, Cutaneous finger syndactyly, Duplication of metatarsal... OMIM:600384
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis, Small hand, Talipes equinovarus, Short foot, Hip dislocation OMIM:300434
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Coronal cleft vertebrae, Pes planus, Scoliosis, Genu valgum, Cleft palat... OMIM:618363
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Achilles tendon contracture, Abnormal foot morphology, Hyperlordosis, Knee flexion contracture, T... OMIM:615290
Arthrogryposis, Distal, Type 3
High palate, Bifid uvula, Single transverse palmar crease, Short neck, Congenital hip dislocation... OMIM:114300
Desbuquois Dysplasia 1
Genu varum, Long philtrum, Broad first metatarsal, Pes planus, Sandal gap, Broad femoral neck, Sc... OMIM:251450
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Talipes equinovarus, Peroneal muscle atrophy OMIM:181400
Erythema Of Acral Regions
Abnormality of the dentition, Talipes equinovarus OMIM:227000
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Spastic Paraplegia 33, Autosomal Dominant
Talipes equinovarus, Ankle clonus OMIM:610244
Pseudodiastrophic Dysplasia
Short neck, Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Platyspondyly, Ton... OMIM:264180
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Abnormal glycosylation OMIM:615596
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Abnormal foot morphology, Overlapping fingers, Congenital hip dislocation, Scoliosis, H... OMIM:618291
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Prominent proximal interphala... OMIM:601560
Meckel Syndrome, Type 8
Cleft upper lip, Short neck, Polydactyly, Postaxial hand polydactyly, Talipes equinovarus, Cleft ... OMIM:613885
Ventriculomegaly And Arthrogryposis
Talipes equinovarus, Hand clenching, Ulnar deviation of the wrist OMIM:619501
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Charcot-Marie-Tooth Disease, Type 4H
Small thenar eminence, Small hypothenar eminence, Pes cavus, Scoliosis, Distal lower limb muscle ... OMIM:609311
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split hand, Split ... DECIPHER:46
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Talipes equinovarus ORPHA:85338
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Catel-Manzke Syndrome
Overriding aorta, High palate, Ulnar deviation of the 2nd finger, Single transverse palmar crease... OMIM:616145
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, S... OMIM:610140
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Kyphosis, Congenital bilateral hip dislocation ORPHA:85288
Chromosome 2Q35 Duplication Syndrome
3-4 finger syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Weaver Syndrome
Finger syndactyly, Long philtrum, Sandal gap, Deep philtrum, Hypoplasia of penis, Pes cavus, Scol... ORPHA:3447
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Arthrogryposis, Distal, Type 2E
Narrow mouth, Talipes equinovarus, Joint contractures involving the joints of the feet, Joint con... OMIM:121070
Femoral-Facial Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Abnormality of pelvic girdle bone morp... ORPHA:1988
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Brachydactyly, Oligodactyly, Ectrodactyly, Talipes equinovarus, Split hand OMIM:612576
Masa Syndrome
Kyphosis, Hyperlordosis, Pes cavus, Adducted thumb, Talipes equinovarus OMIM:303350
Ulna Metaphyseal Dysplasia Syndrome
Abnormal hip bone morphology, Abnormality of the ulna, Nephrolithiasis, Abnormal form of the vert... ORPHA:1837
Crisponi/Cold-Induced Sweating Syndrome 2
Clinodactyly, High palate, 2-3 toe syndactyly, Abnormal foot morphology, Thoracolumbar scoliosis,... OMIM:610313
Classic Homocystinuria
High palate, Abnormality of amino acid metabolism, Kyphosis, Arachnodactyly, Esophageal varix, Sc... ORPHA:394
Catel-Manzke Syndrome
Metatarsus valgus, Abnormality of epiphysis morphology, Atrial septal defect, Clinodactyly of the... ORPHA:1388
Arthrogryposis, Distal, Type 2B1
Narrow mouth, High palate, Calcaneovalgus deformity, Long philtrum, Rocker bottom foot, Metatarsu... OMIM:601680
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Polydactyly, Postaxi... ORPHA:65759
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Abnormal glycosylation, Talipes equinovarus, Hyperlordosis OMIM:611588
Aspartylglucosaminuria
Aspartylglucosaminuria, Abnormality of the ulna, Abnormality of amino acid metabolism, Pes planus... ORPHA:93
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Talipes equinovarus, Hyperlordosis, Scoliosis, Joint contracture of the hand OMIM:611067
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Overlapping fingers, Externally rotated hips, Knee flexion contracture, Unilateral wrist flexion ... OMIM:616531
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Clinodactyly, Cutaneous syndactyly, Abnormal vertebral morphology, Spindle-shaped finger, Delayed... ORPHA:166024
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Finger syndactyly, Triphalangeal thumb, High, narrow palate, Short di... ORPHA:957
Arthrogryposis, Distal, Type 1A
Narrow mouth, Single transverse palmar crease, Absent distal interphalangeal creases, Calcaneoval... OMIM:108120
Cousin Syndrome
Hydronephrosis, Clinodactyly of the 5th finger, Hypoplastic iliac wing, Cleft palate, Hypoplastic... OMIM:260660
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Single transverse palmar crease, Short neck, Areflexia of lower limbs, Kyphosis, Roc... OMIM:611890
Intellectual Developmental Disorder, Autosomal Recessive 61
High palate, Conical tooth, Tapered finger, Pes cavus, Scoliosis, Talipes equinovarus OMIM:617773
Bardet-Biedl Syndrome 5
Micropenis, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Thoracic kyphosis, Long toe, Pes planus, Cleft lip, Arachnodactyly, Large hands, Cleft palate OMIM:300263
Camptodactyly Syndrome, Guadalajara, Type Ii
Brachydactyly, Single transverse palmar crease, Patellar hypoplasia, Long philtrum, Short neck, S... OMIM:211920
Bardet-Biedl Syndrome 6
Renal cyst, Syndactyly, Hypospadias, Polydactyly OMIM:605231
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Upper limb amyotrophy, Talipes equinovarus ORPHA:99940
Charlie M Syndrome
Brachydactyly, Narrow mouth, Short philtrum, Thin vermilion border, Finger syndactyly, Non-midlin... ORPHA:1406
Moebius Syndrome
Brachydactyly, Clinodactyly, High palate, Bifid uvula, Short neck, Abnormality of pelvic girdle b... OMIM:157900
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, Microdontia, Widely spaced teeth, Selective tooth agenesis, Campto... OMIM:225280
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Acrofacial Dysostosis, Palagonia Type
Spina bifida occulta at S1, Cleft upper lip, Short 4th metacarpal, Oligodontia, Unilateral cleft ... OMIM:601829
Multiple Synostoses Syndrome 2
Brachydactyly, Carpal synostosis, Finger symphalangism, Vertebral fusion, Humeroradial synostosis... OMIM:610017
Prieto Syndrome
Clinodactyly, Coxa valga, Radial deviation of finger, Patellar dislocation, Abnormality of the de... OMIM:309610
Lambert Syndrome
Talipes equinovarus, Hypospadias, Wide mouth OMIM:245550
Microtriplication 11Q24.1
Short philtrum, Short neck, Clinodactyly of the 5th finger, Metatarsus adductus, Scoliosis, Irreg... ORPHA:289522
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Kyphosis, Equinovarus deformity... OMIM:609128
Microphthalmia With Limb Anomalies
Toe syndactyly, High palate, Single transverse palmar crease, Hand oligodactyly, Postaxial foot p... OMIM:206920
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Scoliosis OMIM:601382
Tyrosinemia Type 2
Abnormality of amino acid metabolism, Palmoplantar keratoderma ORPHA:28378
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split hand, Split foot, Cleft palate OMIM:183700
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Talipes equinovarus, Limb undergrowth, Occipital encephalocele OMIM:614209
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Spina bifida, Short tibia, Increased laxity o... ORPHA:93323
Spinocerebellar Ataxia, Autosomal Recessive 20
Brachydactyly, Clinodactyly, High palate, Long philtrum, Delayed eruption of teeth, Macroglossia,... OMIM:616354
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Hy... OMIM:223800
Rhizomelic Syndrome, Urbach Type
Brachydactyly, High palate, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Abnormal... ORPHA:3098
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Advanced ossification of carpal bones, Carpal synostosis, Long upper lip, Platyspondyly, Flared m... OMIM:615349
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
2Q32Q33 Microdeletion Syndrome
Narrow mouth, High palate, Toe clinodactyly, Long philtrum, Clinodactyly of the 5th finger, Oligo... ORPHA:251019
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hemivertebra... ORPHA:93322
Spondyloepiphyseal Dysplasia Congenita
Pierre-Robin sequence, Cervical myelopathy, Limitation of knee mobility, Bifid uvula, Short neck,... OMIM:183900
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Talipes equinovarus OMIM:208100
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Scoliosis, Tongue fasciculations, Camptodactyly of finger, Talipes equinovarus, Clef... OMIM:614399
Roussy-Lévy Syndrome
Intrinsic hand muscle atrophy, Pes cavus, Urinary bladder sphincter dysfunction, Scoliosis, Kypho... ORPHA:3115
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot, Long philtrum, Patent foramen ovale, Tetralogy of Fallot with absent pulmona... OMIM:239711
Arthrogryposis, Distal, Type 5D
Calcaneovalgus deformity, Elbow flexion contracture, Short neck, Hyperlordosis, Adducted thumb, T... OMIM:615065
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Renal cyst, Single transverse palmar crease, 2-3 toe syndactyly, Short neck, Cutan... OMIM:236500
Chromosome 15Q26-Qter Deletion Syndrome
Brachydactyly, Micropenis, Short middle phalanx of finger, Talipes equinovarus, Hypospadias, Abno... OMIM:612626
Maxillonasal Dysplasia
Vertebral clefting, Open bite, Low levels of vitamin K, Aplasia/Hypoplasia of the distal phalange... ORPHA:1248
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Mesomelic leg shortening, Syndactyly, Abnormal oral frenulum mor... OMIM:300244
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Talipes equinovarus, Hip dysplasia, Hypospadias, Hip dislocation ORPHA:250994
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Bowing of the arm, Mesomelic leg shortening, Mesomelic arm shortening, Campto... OMIM:249710
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Hamartoma of tongue, Polycystic kid... OMIM:613091
Charcot-Marie-Tooth Disease, Type 4B2
Ulnar claw, Hammertoe, Pes cavus, Kyphoscoliosis, Talipes equinovarus, Split hand OMIM:604563
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis, Talipes equinovarus, Hip dislocation OMIM:616756
Spastic Paraplegia 50, Autosomal Recessive
Short philtrum, High palate, Drooling, Adducted thumb, Talipes equinovarus, Wide mouth OMIM:612936
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limitation of knee mobility, Limited elbow movement OMIM:276821
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Contractures involving the joints of the feet, Elbow flexion contracture, Pes planus, T... ORPHA:536516
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Single transverse palmar crease, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Apla... OMIM:609432
Cleft Palate, Cardiac Defects, And Mental Retardation
Short 2nd finger, Cleft upper lip, 2-3 toe syndactyly, Cutaneous syndactyly, Atrial septal defect... OMIM:600987
Spastic Paraplegia 47, Autosomal Recessive
High palate, Short philtrum, Pes planus, Genu recurvatum, Talipes equinovarus, Acetabular dysplas... OMIM:614066
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Pes planus, Delayed pubic bone o... OMIM:184250
Holt-Oram Syndrome
Small thenar eminence, Aplasia of the ulna, Hypoplastic left heart, Ventricular septal defect, Ap... OMIM:142900
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis, Talipes equinovarus, Split hand OMIM:607831
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Short 5th metacarpal, Single transverse palmar cr... ORPHA:370010
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Macroglossia, Talipes equinovarus, Calf muscle hypertrophy, Triangular to... OMIM:616827
Spastic Paraplegia 64, Autosomal Recessive
Talipes equinovarus OMIM:615683
Aarskog-Scott Syndrome
Talipes, Long philtrum, Pes planus, Clinodactyly of the 5th finger, Broad palm, Everted lower lip... ORPHA:915
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Pes cavus, Talipes equinovarus, Ulnar claw, Scoliosis OMIM:608340
Bruck Syndrome 1
Kyphosis, Elbow flexion contracture, Vertebral wedging, Ankle flexion contracture, Platyspondyly,... OMIM:259450
Pelvis-Shoulder Dysplasia
Hydronephrosis, Spina bifida, Cleft palate, Hypoplastic pubic bone, Aplasia/Hypoplasia of the fib... ORPHA:2839
Mehmo Syndrome
Micropenis, Tapered finger, Hypoplasia of penis, Talipes equinovarus, Downturned corners of mouth... ORPHA:85282
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Contractural Arachnodactyly, Congenital
Patellar dislocation, Scoliosis, Ventricular septal defect, Patellar subluxation, Bowing of the l... OMIM:121050
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Short neck, Hypoplastic vertebral bodies, Atrial septal d... ORPHA:2347
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, High palate, Thoracic scoliosis, Oligodontia, Syndactyly, Short thum... OMIM:600325
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Atelosteogenesis Type Ii
Cervical kyphosis, Long philtrum, Sandal gap, Rhizomelic arm shortening, Micromelia, Ulnar deviat... ORPHA:56304
Rhizomelic Chondrodysplasia Punctata, Type 5
Narrow iliac wing, Metaphyseal irregularity, Thoracic scoliosis, Irregular capital femoral epiphy... OMIM:616716
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome
Bilateral talipes equinovarus, Abnormality of finger, Movement abnormality of the tongue ORPHA:2560
Aase-Smith Syndrome I
Slender finger, Open mouth, Ventricular septal defect, Talipes equinovarus, Cleft palate OMIM:147800
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Abnormal foot morphology, Preaxial polydactyly, Abnormal verte... ORPHA:64754
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Clinodactyly of the 5th finger, Tapered finger, Pyloric stenosis, Hydroureter, T... OMIM:617219
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Narrow mouth, High palate, Long philtrum, Patent foramen ovale, Arachnodactyly, Adducted thumb, T... OMIM:615539
Rubinstein-Taybi Syndrome 2
High palate, Intestinal malrotation, Carious teeth, Broad hallux, Increased overbite, Broad thumb... OMIM:613684
Charcot-Marie-Tooth Disease Type 4A
Bilateral talipes equinovarus, Hyporeflexia of upper limbs, Limited wrist movement, Hammertoe, Li... ORPHA:99948
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Slender finger, Long toe, Atrial septal defect, Long fingers, Bicuspid aortic valve, Talipes equi... OMIM:613355
Congenital Disorder Of Glycosylation, Type Iih
Clinodactyly of the 3rd toe, Bilateral coxa valga, Type II transferrin isoform profile, Scoliosis... OMIM:611182
Spastic Paraplegia 45, Autosomal Recessive
Talipes equinovarus OMIM:613162
Crisponi/Cold-Induced Sweating Syndrome 1
Narrow mouth, High palate, Short neck, Elbow flexion contracture, Short palm, Long philtrum, Pes ... OMIM:272430
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Bilateral single... ORPHA:2633
Filippi Syndrome
Short philtrum, Single transverse palmar crease, Cutaneous syndactyly, Hypodontia, Microdontia, 2... OMIM:272440
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Clinodactyly of the 5th finger, Patellar dislocation, Scoliosis, Tibial torsion, Apla... ORPHA:3320
Autosomal Recessive Centronuclear Myopathy
Narrow mouth, High palate, Bifid uvula, Left ventricular hypertrophy, Abnormal heart valve morpho... ORPHA:169186
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Aplasia of the middle phalanx of the hand, Abnormal... ORPHA:3168
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Atrial septal defect, Tracheoesophageal fistula, Abnormal vert... ORPHA:261272
Marden-Walker Syndrome
Narrow mouth, High palate, Short neck, Long philtrum, Kyphosis, Micropenis, Renal hypoplasia, Dex... OMIM:248700
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Small thenar eminence, Ectopic kidney, Abnormality of the vertebral column, Cleft u... OMIM:239800
Bardet-Biedl Syndrome 4
Brachydactyly, Renal cyst, Polydactyly, Abnormality of the dentition, Syndactyly OMIM:615982
Congenital Disorder Of Glycosylation, Type Id
Clinodactyly, High palate, Bifid uvula, Adducted thumb, Long fingers, Type I transferrin isoform ... OMIM:601110
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Finger syndactyly, Long philtrum, Deep philtrum, Scoliosis, Proximal p... ORPHA:1825
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Syndactyly, Hallux valgus, Cleft palate, Camptodactyly, Split hand, Spli... OMIM:603543
Hypomelanosis Of Ito
Clinodactyly, Kyphosis, Thick lower lip vermilion, Hand polydactyly, Scoliosis, Irregularly space... OMIM:300337
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Narrow mouth, Anisospondyly, Short long bone, Talipes equinovarus OMIM:224410
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Talipes equinovarus OMIM:616486
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Microdontia, Deep philtrum, Rad... OMIM:605282
Myopathy, Centronuclear, 2
High palate, Kyphosis, Hyperlordosis, Pes cavus, Scoliosis, Talipes equinovarus, Scapular winging OMIM:255200
Congenital Disorder Of Glycosylation, Type Ih
Abnormal isoelectric focusing of serum transferrin, Short neck, Long philtrum, Abnormal heart mor... OMIM:608104
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Poorly ossified ver... ORPHA:1263
Acrofacial Dysostosis Syndrome Of Rodriguez
Narrow mouth, Clinodactyly, High palate, Short philtrum, Single transverse palmar crease, Fibular... OMIM:201170
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Cleft palate, Median cleft lip, Syndactyly OMIM:300484
Early-Onset Schizophrenia
Suicidal ideation, Cognitive impairment, Unhappy demeanor, Anxiety, Anhedonia, Emotional lability... ORPHA:96369
Juberg-Hayward Syndrome
Toe syndactyly, Horseshoe kidney, Abnormality of finger, Hammertoe, Short thumb, Hypoplasia of th... ORPHA:2319
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Ehlers-Danlos Syndrome, Classic Type, 2
Talipes equinovarus, Congenital hip dislocation OMIM:130010
Rosselli-Gulienetti Syndrome
Cleft upper lip, Palmoplantar hyperkeratosis, Hypodontia, Abnormality of the philtrum, Microdonti... OMIM:225000
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Short palm, Sandal gap, Oligodontia, Short ... ORPHA:90650
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Postaxial polydactyly OMIM:612913
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Vertebral segmentation defect, Talipes, Clinodactyly of the 5th finge... ORPHA:1836
Keratoconus Posticus Circumscriptus
Brachydactyly, Cleft upper lip, Short neck, Clinodactyly of the 5th finger, Limited elbow extensi... OMIM:244600
Congenital Heart Defects And Ectodermal Dysplasia
Premature loss of primary teeth, Microdontia, Widely spaced teeth, Scoliosis, Broad thumb, Syndac... OMIM:617364
Atelosteogenesis Type I
Brachydactyly, Malrotation of colon, Coronal cleft vertebrae, Absent or minimally ossified verteb... ORPHA:1190
Kniest-Like Dysplasia, Lethal
Brachydactyly, Narrow mouth, Metaphyseal irregularity, Coronal cleft vertebrae, Short neck, Hypop... OMIM:245190
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Long philtrum, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th... ORPHA:1106
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Clinodactyly, High palate, Short palm, Tapered finger, Camptodactyly of finger, Talipes equinovarus ORPHA:85279
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Coronal cleft vertebrae, Shoulder dislocation, Long philtrum, Pes planus, Widely spaced teeth, Mi... OMIM:143095
Rahman Syndrome
Camptodactyly, Kyphoscoliosis, Talipes equinovarus OMIM:617537
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Short mi... ORPHA:93409
Prune Belly Syndrome
Vertebral segmentation defect, Tetralogy of Fallot, Abnormality of the ureter, Atrial septal defe... ORPHA:2970
Ritscher-Schinzel Syndrome 2
Clinodactyly, Short philtrum, Protruding tongue, Atrial septal defect, Broad hallux, Short distal... OMIM:300963
Monosomy 5P
High palate, Finger syndactyly, Short neck, Scoliosis, Small hand ORPHA:281
Freeman-Sheldon Syndrome
Narrow mouth, Absent palmar crease, Long philtrum, Abnormality of the dentition, Scoliosis, Ulnar... ORPHA:2053
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Thoracic scoliosis, Short neck, Long philtrum, Overlapping fingers... OMIM:617022
Acrorenal Syndrome
Abnormality of the ulna, Abnormality of tibia morphology, Renal insufficiency, Split hand, Cleft ... ORPHA:971
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Proximal tapering of metacarpals, Urinary glycosaminoglycan... OMIM:253220
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Internally rotated shoulders, Ankle flexion contracture, Knee flexion contracture, T... OMIM:617468
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormality of finger, Atrial septal defect, Short thumb, Hypospadias, Metatarsus adductus, High,... ORPHA:436003
Tarp Syndrome
Tongue nodules, Clinodactyly, High palate, Tetralogy of Fallot, Horseshoe kidney, Single transver... OMIM:311900
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Ventricular septal defect, Truncus arterios... OMIM:228940
Holt-Oram Syndrome
Absent thumb, Finger syndactyly, Kyphosis, Phocomelia, Atrioventricular canal defect, Atrial sept... ORPHA:392
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Nescav Syndrome
Talipes equinovarus OMIM:614255
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Abnormal foot morphology, Talipes equinovarus OMIM:613710
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Transient neonatal diabetes mellitus, Maternal diabetes, Maturity-onset di... ORPHA:99886
Chromosome 1Q41-Q42 Deletion Syndrome
Vertebral segmentation defect, Talipes equinovarus, Cleft upper lip, Cleft palate OMIM:612530
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, High palate, Solitary median maxillary central incisor, Cleft upper lip, Hand oligo... OMIM:602418
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Brachydactyly, High palate, Short philtrum, Tetralogy of Fallot, 2-3 t... ORPHA:3306
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Talipes equinovarus, Scoliosis OMIM:616155
Nail-Patella Syndrome
Quadriceps aplasia, Absent distal interphalangeal creases, Proteinuria, Pes planus, Clinodactyly ... OMIM:161200
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Bilateral talipes equinovarus, Coxa valga, Abnormal number of incisors, Finger clinodactyly, Pate... ORPHA:2958
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Adducted thumb, Talipes equinovarus, Kyphosis, Scoliosis OMIM:618484
Nail-Patella Syndrome
Proteinuria, Pes planus, Clinodactyly of the 5th finger, Abnormal patella morphology, Patellar di... ORPHA:2614
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Aplasia/Hypoplasia of ... OMIM:611377
Charcot-Marie-Tooth Disease Type 4G
Distal lower limb muscle weakness, Pes valgus, Abnormal foot morphology, Distal upper limb muscle... ORPHA:99953
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Proximal Symphalangism
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Elb... ORPHA:3250
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Thoracolumbar scoliosis, Anal atresia, Urethral obstruction, Preaxial hand poly... OMIM:601389
Mohr Syndrome
Clinodactyly of the 5th finger, Agenesis of central incisor, Scoliosis, Bilateral postaxial polyd... OMIM:252100
Perrault Syndrome 1
Pes cavus, High palate, Talipes equinovarus, Scoliosis OMIM:233400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix, Abnormality of amino acid metabolism, Hypertrophic cardiomyopathy, Low levels o... ORPHA:309854
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Upper limb asymmetry, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Narrow mouth, Short philtrum, Long philtrum, Camptodactyly, Talipes equinovarus, Downturned corne... OMIM:617333
Teebi-Shaltout Syndrome
Narrow mouth, Ureteral stenosis, Horseshoe kidney, Single transverse palmar crease, Rocker bottom... OMIM:272950
Oculofaciocardiodental Syndrome
Long philtrum, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Short thumb, Flexion contra... ORPHA:2712
Scapuloperoneal Spinal Muscular Atrophy
Clinodactyly, Kyphosis, Peroneal muscle atrophy, Hyperlordosis, Peroneal muscle weakness, Metatar... OMIM:181405
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Micromelia, Scol... ORPHA:2635
Crane-Heise Syndrome
Toe syndactyly, Finger syndactyly, Aplastic clavicle, Hypoplastic scapulae, Hypoplasia of penis, ... ORPHA:1512
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Block vertebrae, Pes planus, Clinodactyly of the 5th finger, Scoliosis, Verteb... OMIM:272460
Schwartz-Jampel Syndrome, Type 1
Narrow mouth, Coronal cleft vertebrae, Umbilical hernia, Coxa valga, Short neck, Joint contractur... OMIM:255800
Peroxisome Biogenesis Disorder 7A (Zellweger)
High palate, Talipes equinovarus, Epiphyseal stippling, Long philtrum OMIM:614872
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Long philtrum, Clinodactyly of the 5th finger, Microdontia, Ventric... ORPHA:251028
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Microdontia, Short uvula, Polycystic kidney dysplasia, Micromelia, Cleft palate, Brachydactyly, B... OMIM:614091
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft lip, Anencephaly, Hypoplastic left heart, Spina bifida, Ventricul... ORPHA:2476
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, Thoracic platyspondyly, Cleft palate, Enc... OMIM:108720
Constricting Bands, Congenital
Cleft upper lip, Ectopia cordis, Bladder exstrophy, Hand polydactyly, Scoliosis, Talipes equinova... OMIM:217100
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis, Clinodactyly, Radial deviation of finger, Scoliosis, Ventricular septa... OMIM:154400
Isolated Osteopoikilosis
Abnormal pelvis bone morphology, Sclerotic foci within carpal bones, Abnormal pelvis bone ossific... ORPHA:166119
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Bilateral talipes equinovarus, High palate, Micropenis, Overlapping fi... OMIM:618142
Kbg Syndrome
Thoracic kyphosis, Single transverse palmar crease, Long philtrum, Short neck, Cutaneous syndacty... ORPHA:2332
Caudal Regression Syndrome
Ectopic kidney, Abnormality of the ureter, Abnormality of pelvic girdle bone morphology, Ureteral... ORPHA:3027
Robin Sequence With Cleft Mandible And Limb Anomalies
Bifid uvula, Fibular hypoplasia, Clinodactyly of the 5th finger, Short thumb, Cleft lower alveola... OMIM:268305
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Abnormality of the vertebral column, Intrinsic hand musc... ORPHA:101097
Cystathioninuria
Cystathioninuria, Talipes equinovarus, Nephrolithiasis ORPHA:212
Verloove Vanhorick-Brubakk Syndrome
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral b... ORPHA:3429
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Ureteral atresia, Hydronephrosis, Thoracolumbar scoliosis, Spina bifida occulta... OMIM:183802
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Toe syndactyly, High palate, Short neck, Long philtrum, Sacral dimple, Atrial septal defect, Tape... ORPHA:505237
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Short neck, Patent foramen ovale, Open mouth, Everted lower lip vermilion, Macroglo... OMIM:616789
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Wieacker-Wolff Syndrome
Broad alveolar ridges, High palate, Short neck, Long philtrum, Drooling, Kyphosis, U-Shaped upper... OMIM:314580
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Finger syndactyly, Triphalangeal thumb, Everted lower lip vermilion, Sh... ORPHA:2251
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Hydronephrosis, Rectal prolapse, Hypoplastic iliac wing, Scoliosis, ... OMIM:235510
Poland Syndrome
Unilateral brachydactyly, Dextrocardia, Hypoplasia of deltoid muscle, Unilateral oligodactyly, He... OMIM:173800
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Talipes equinovarus, Ventricular septal defect OMIM:209770
Larsen Syndrome
Cervical kyphosis, Scoliosis, Ventricular septal defect, Cleft palate, Hip dislocation, Bipartite... OMIM:150250
Ellis-Van Creveld Syndrome
Cone-shaped epiphyses of phalanges 2 to 5, Short long bone, Cleft upper lip, Postaxial foot polyd... OMIM:225500
Spastic Paraplegia 55, Autosomal Recessive
Talipes equinovarus OMIM:615035
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Enlarged kidney, Absent radius, Hydronephrosis, Tracheoesoph... OMIM:314390
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Abnormal form... ORPHA:1788
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, Bifid uvula, 2-3 toe syndactyly, Postaxial foot polydac... OMIM:263540
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Clinodactyly of the 5th finger, Co... ORPHA:363417
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Aortic valve stenosis, Atrial septal defect, Hydronephrosis, Anal atresia, D... OMIM:220210
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Enamel hypoplasia, Thin upper lip vermilion, Syndactyly OMIM:613576
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Talipes, Hypoplastic sacrum, Atrial septal defect, Renal hypoplasia, Spinal dysraphi... OMIM:617660
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Abnormality of amino acid metabolism ORPHA:220295
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Brachydactyly, Clinodactyly, High palate, Long philtrum, Atrial septal defect, Oligosacchariduria... ORPHA:397709
Jaberi-Elahi Syndrome
Talipes, Kyphosis, Scoliosis, Hand clenching, Abnormality of the dentition, Talipes equinovarus, ... OMIM:617988
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Preaxial hand polydactyly, Postaxi... ORPHA:380
Atelosteogenesis Type Iii
Coronal cleft vertebrae, Vertebral hypoplasia, Epiphyseal stippling of the humerus, Patellar disl... ORPHA:56305
Acromelic Frontonasal Dysostosis
Cleft upper lip, Preaxial polydactyly, U-Shaped upper lip vermilion, Polydactyly, Talipes equinov... OMIM:603671
Laing Early-Onset Distal Myopathy
High palate, Dilated cardiomyopathy, Talipes cavus equinovarus, Toe extensor amyotrophy, Scoliosi... ORPHA:59135
Van Den Ende-Gupta Syndrome
Everted lower lip vermilion, Distal ulnar hypoplasia, High, narrow palate, Camptodactyly of toe, ... OMIM:600920
Carey-Fineman-Ziter Syndrome
Brachydactyly, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, High palate, Glandular hy... ORPHA:1358
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Clinodactyly, High palate, Nephrotic syndrome, Single transverse pal... OMIM:618348
Nievergelt Syndrome
Radioulnar synostosis, Tarsal synostosis, Talipes equinovarus, Genu valgum, Metatarsal synostosis... OMIM:163400
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, High palate, Wide capital femoral epiphyses, Patellar hypoplasia,... OMIM:147891
Desbuquois Dysplasia 2
Genu varum, Bifid uvula, Long philtrum, Pes planus, Metaphyseal widening, Cleft palate, Hip dislo... OMIM:615777
Wieacker-Wolff Syndrome, Female-Restricted
Achilles tendon contracture, Short neck, Long philtrum, Drooling, Kyphosis, Rocker bottom foot, U... OMIM:301041
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Tapered finger, Short thumb, Tented upper lip vermilion, Left ventricular ... OMIM:619148
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Renal hypoplasia, Camptodactyly, Split hand, Cleft palate OMIM:246560
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
High palate, Short neck, Long philtrum, Sacral dimple, Atrial septal defect, Tapered finger, Down... OMIM:617452
Eem Syndrome
Finger syndactyly, Microdontia, Widely spaced teeth, Carious teeth, Ectrodactyly, Abnormality of ... ORPHA:1897
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Tapered finger, Microglossia, Scoliosis, Pectoralis hypoplasia, Glossoptos... OMIM:254940
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Long philtrum, Pes planus, Ventricular septal defect, Hallux valgus, Metaphyse... OMIM:271640
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum, Kyphosis, Pes planus, Hyperlordosis, Scoliosis, Hyperextensibility of the f... OMIM:617821
Arthrogryposis, Distal, Type 5
Bilateral talipes equinovarus, Clinodactyly, High palate, Decreased palmar creases, Limited wrist... OMIM:108145
Arthrogryposis, Distal, Type 2A
Long philtrum, Scoliosis, Ulnar deviation of the hand or of fingers of the hand, Hip dislocation,... OMIM:193700
Saul-Wilson Syndrome
Coxa valga, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Platyspondyly, ... OMIM:618150
Mosaic Trisomy 9
Endocardial fibroelastosis, Hydronephrosis, Dextrocardia, Micromelia, Spina bifida, Scoliosis, Ve... ORPHA:99776
Chromosome 18Q Deletion Syndrome
Bifid uvula, Pes planus, Pes cavus, Scoliosis, Ventricular septal defect, Dysplastic pulmonary va... OMIM:601808
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Fibular hypoplasia, Mesomelic leg shortening, Hypoplasti... OMIM:609945
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal distal phalanx morphology of finger, Abnormal hip bone morphol... ORPHA:2725
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Long toe, Cutaneous syndactyly, Atrial septal defect, ... OMIM:618316
Central Core Disease
Pes planus, Congenital hip dislocation, Kyphoscoliosis, Talipes equinovarus, Mitral valve prolapse ORPHA:597
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Shortening of all phalanges of fingers, Platyspondyly, Limb underg... OMIM:601356
Martsolf Syndrome 1
High palate, Short philtrum, Short palm, Micropenis, Short metacarpal, Broad fingertip, Short pha... OMIM:212720
Ring Chromosome 21 Syndrome
Clinodactyly, Narrow palm, Fused thoracic vertebrae, Scoliosis, Abnormal heart morphology, Small ... ORPHA:1445
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachydactyly, Tetralogy of Fallot, Vertebral clefting, Single transverse palmar crease, 2-3 toe ... OMIM:614701
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Myelomeningocele, Short neck, Narrow pelvis bone, ... ORPHA:66637
Prune Belly Syndrome
Hydronephrosis, Congenital hip dislocation, Anal atresia, Abnormal heart morphology, Congenital p... OMIM:100100
Orofaciodigital Syndrome Vi
Brachydactyly, Clinodactyly, Toe syndactyly, Accessory oral frenulum, Central Y-shaped metacarpal... OMIM:277170
Achondrogenesis Type 1B
Short neck, Long philtrum, Micromelia, Umbilical hernia, Talipes equinovarus, Short foot ORPHA:93298
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Ectopic anus, Finger syndactyly, Short neck, Abnormality of the dentition, Triphalangeal thumb, A... ORPHA:2994
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Median cleft palate, Patellar hypoplasia, Absent tibia, Talipes eq... OMIM:119800
Mucolipidosis Ii Alpha/Beta
Long philtrum, Macroglossia, Metaphyseal widening, Cardiomegaly, Hip dislocation, Ovoid vertebral... OMIM:252500
Larsen-Like Syndrome
Dental malocclusion, Bipartite calcaneus, Clinodactyly of the 5th finger, Radial deviation of the... OMIM:608545
Multiple Pterygium Syndrome, Escobar Variant
Long philtrum, Scoliosis, Dysplastic patella, Camptodactyly of toe, Cleft palate, Hip dislocation... OMIM:265000
Pfeiffer Syndrome
Brachydactyly, Synostosis of carpal bones, High palate, Symphalangism affecting the phalanges of ... ORPHA:710
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Pes valgus, 2-3 toe syndactyly, Long philtrum, Patent foramen ovale, Pes planus... ORPHA:477817
Cantú Syndrome
Coxa valga, Finger syndactyly, Long philtrum, Short neck, Ovoid vertebral bodies, Abnormal heart ... ORPHA:1517
Czeizel-Losonci Syndrome
High palate, Myelomeningocele, Single transverse palmar crease, Hydronephrosis, Tracheoesophageal... ORPHA:2437
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Bifid uvula, Abnormal pelvis bone morphology, Sandal gap, Flared femoral... ORPHA:1427
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Tongue atrophy, Enuresis nocturna, Thoracic kyphosis, Pes cavus, Tal... OMIM:617114
Charcot-Marie-Tooth Disease, Type 4B3
Pes planus, Urinary incontinence, Scoliosis, Syndactyly OMIM:615284
Acrodysplasia Scoliosis
Brachydactyly, Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Clinodactyly, High palate, Nephrotic syndrome, Dilated cardiomyopath... OMIM:616730
Morgagni-Stewart-Morel Syndrome
Suicidal ideation, Cognitive impairment, Abnormal metabolism, Memory impairment ORPHA:77296
Arthrogryposis, Distal, With Impaired Proprioception And Touch
High palate, Pes planus, Sandal gap, Arachnodactyly, Talipes equinovarus, Scoliosis, Thin upper l... OMIM:617146
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Pulmonic stenosis, Situs in... OMIM:615415
Congenital Disorder Of Glycosylation, Type Ig
Short philtrum, Patent foramen ovale, Micropenis, Sandal gap, Rhizomelia, Hypoplasia of the radiu... OMIM:607143
6P22 Microdeletion Syndrome
Clinodactyly, Abnormal palate morphology, Finger syndactyly, Short neck, Hydronephrosis ORPHA:251046
Blepharophimosis-Impaired Intellectual Development Syndrome
Short philtrum, Dental malocclusion, Drooling, Enamel hypoplasia, Pes planus, Clinodactyly of the... OMIM:619293
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Weaver Syndrome
Clinodactyly, Long philtrum, Flared humeral metaphysis, Radial deviation of finger, Flared femora... OMIM:277590
Otopalatodigital Syndrome, Type I
Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Scoliosis, Multiple i... OMIM:311300
Isolated Klippel-Feil Syndrome
Ectopic anus, Abnormality of the vertebral column, Abnormal sacrum morphology, Short neck, Cervic... ORPHA:2345
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Platyspondyly, Micromelia, Flared metaphysis, Short long bone, B... OMIM:601561
Slc35A2-Cdg
Abnormal glycosylation, Aplasia/hypoplasia involving bones of the extremities, Tetralogy of Fallo... ORPHA:356961
3C Syndrome
Abnormal hip bone morphology, Hydronephrosis, Abnormal mitral valve morphology, High, narrow pala... ORPHA:7
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Bifid uvula, Single transverse palmar crease, Short neck, Vertebral compression f... OMIM:309583
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, 3-Methylglutacon... OMIM:302060
Microcephaly-Micromelia Syndrome
Narrow mouth, Short neck, Absent radius, Oligodactyly, Micromelia, Short tibia, Humeroradial syno... OMIM:251230
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Cleft upper lip, Scoliosis, Ventricular septal defec... OMIM:214300
Craniofrontonasal Dysplasia
Brachydactyly, High palate, Congenital pseudoarthrosis of the clavicle, Finger syndactyly, Abnorm... ORPHA:1520
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Short philtrum, Atrial septal defect, Open mouth, Arachnodactyly, Scoliosis, Ventricular septal d... OMIM:301039
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Short philtrum, Hypoplasia of the ulna, Finger syndac... ORPHA:3258
Adams-Oliver Syndrome 6
Brachydactyly, Renal hypoplasia, Esophageal varix, Foot oligodactyly, Ventricular septal defect, ... OMIM:616589
Cranioectodermal Dysplasia
Brachydactyly, Finger syndactyly, Rhizomelia, Clinodactyly of the 5th finger, Hypodontia, Everted... ORPHA:1515
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Abnormality of the ureter, Finger syndactyly, Long philtrum, Short... ORPHA:2311
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Long philtrum, Pes planus, Sandal gap, Bilateral elbow dislocations, Microd... OMIM:245600
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Moebius Syndrome
Brachydactyly, Aplasia/Hypoplasia of the tongue, Abnormality of the ulna, High palate, Finger syn... ORPHA:570
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Perimembranous ventricular septal defect, Clinodactyly, Coxa valga, Protruding tongue, Micropenis... OMIM:301040
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Overlapping fingers, Micromelia, Limb undergrowth, Camptodactyly, Cleft palate, ... OMIM:601016
Dystonia, Dopa-Responsive
Pes cavus, Talipes equinovarus, Scoliosis OMIM:128230
Kbg Syndrome
Clinodactyly, Thoracic kyphosis, Single transverse palmar crease, Long philtrum, Oligodontia, Ver... OMIM:148050
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Preaxial foot polydactyly, Broad hallux, Abnormal heart morphology, P... OMIM:175700
Giant Axonal Neuropathy
Abnormality of the Achilles tendon, Abnormal hand morphology, Pes cavus, Scoliosis, Talipes equin... ORPHA:643
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Clinodactyly, Single transverse palmar crease, Tapered finger, Tented upper lip vermilion, Pes ca... OMIM:617807