Gene Summary

Name:
transmembrane protein 132A
Synonyms:
Hspa5bp1,  6720481D13Rik

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 craniofacial morphology Tmem132atm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal limb morphology Tmem132atm1b(KOMP)Wtsi HOM E15.5 0.00
decreased bone mineral content Tmem132atm1b(KOMP)Wtsi HET   Early adult 4.52×10-05
syndactyly Tmem132atm1b(KOMP)Wtsi HOM E15.5 0.00
abnormal limb morphology Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
preweaning lethality, complete penetrance Tmem132atm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal facial morphology Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
unresponsive to tactile stimuli Tmem132atm1b(KOMP)Wtsi HET E18.5 0.00
increased total body fat amount Tmem132atm1b(KOMP)Wtsi HET Early adult 2.70×10-05
abnormal bone structure Tmem132atm1b(KOMP)Wtsi HET   Early adult 4.65×10-05
syndactyly Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal tail morphology Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
spina bifida Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal neural tube closure Tmem132atm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal tail morphology Tmem132atm1b(KOMP)Wtsi HOM E12.5 0.00
unresponsive to tactile stimuli Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
spina bifida Tmem132atm1b(KOMP)Wtsi HOM E15.5 0.00
abnormal embryo size Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal head shape Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal limb bud morphology Tmem132atm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal cranium morphology Tmem132atm1b(KOMP)Wtsi HOM E12.5 0.00

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland 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)
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (4 of 4)
Axial skeleton N/A heterozygote 100% (4 of 4)
Brain N/A heterozygote 100% (4 of 4)
Central nervous system ganglion N/A heterozygote 100% (4 of 4)
Cranium N/A heterozygote 100% (4 of 4)
Dorsal root ganglion N/A heterozygote 100% (4 of 4)
Ear N/A heterozygote 100% (4 of 4)
Embryo N/A heterozygote 100% (4 of 4)
Outer ear N/A heterozygote 100% (4 of 4)
Eye N/A heterozygote 100% (4 of 4)
Femur pre-cartilage condensation N/A heterozygote 100% (4 of 4)
Footplate N/A heterozygote 100% (4 of 4)
Forearm N/A heterozygote 100% (4 of 4)
Forebrain N/A heterozygote 100% (4 of 4)
Forelimb N/A heterozygote 100% (4 of 4)
Fronto-nasal process N/A heterozygote 100% (4 of 4)
Gut N/A heterozygote 100% (4 of 4)
Handplate N/A heterozygote 100% (4 of 4)
Head mesenchyme N/A heterozygote 100% (4 of 4)
Head N/A heterozygote 100% (4 of 4)
Heart ventricle N/A heterozygote 100% (4 of 4)
Heart N/A heterozygote 100% (4 of 4)
Hindbrain N/A heterozygote 100% (4 of 4)
Hindlimb N/A heterozygote 100% (4 of 4)
Humerus pre-cartilage condensation N/A heterozygote 100% (4 of 4)
Inner ear N/A heterozygote 100% (4 of 4)
Intestine N/A heterozygote 75% (3 of 4)
Liver N/A heterozygote 100% (4 of 4)
Lower leg N/A heterozygote 100% (4 of 4)
Lung N/A heterozygote 100% (4 of 4)
Mandibular process N/A heterozygote 100% (4 of 4)
Maxillary process N/A heterozygote 100% (4 of 4)
Mesonephros of female N/A heterozygote 100% (4 of 4)
Mesonephros of male N/A heterozygote 100% (4 of 4)
Metanephros N/A heterozygote 100% (4 of 4)
Midbrain N/A heterozygote 100% (4 of 4)
Nasal septum N/A heterozygote 100% (4 of 4)
Nose N/A heterozygote 100% (4 of 4)
Notochord N/A heterozygote 100% (4 of 4)
Oral cavity N/A heterozygote 100% (4 of 4)
Outflow tract N/A heterozygote 100% (4 of 4)
Pancreas N/A heterozygote 100% (4 of 4)
N/A heterozygote 100% (4 of 4)
Pharynx N/A heterozygote 100% (4 of 4)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (4 of 4)
Rib pre-cartilage condensation N/A heterozygote 100% (4 of 4)
Skeleton N/A heterozygote 100% (4 of 4)
Skin N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Stomach N/A heterozygote 100% (4 of 4)
Tail somite N/A heterozygote 100% (4 of 4)
Tail N/A heterozygote 100% (4 of 4)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (4 of 4)
Tongue N/A heterozygote 100% (4 of 4)
Trachea N/A heterozygote 100% (4 of 4)
Trunk mesenchyme N/A heterozygote 100% (4 of 4)
Umbilical artery embryonic part N/A heterozygote 100% (4 of 4)
Umbilical vein embryonic part N/A heterozygote 100% (4 of 4)
Upper arm N/A heterozygote 100% (4 of 4)
Upper leg N/A heterozygote 100% (4 of 4)
Urinary system N/A heterozygote 100% (4 of 4)
Vibrissa N/A heterozygote 100% (4 of 4)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

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 Skull Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

X-ray

XRay Images Forepaw

16 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of left eye

15 Images

MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

MicroCT E18.5

Embryo reconstruction

6 Images

Embryo LacZ

LacZ images wholemount

4 Images

Adult LacZ

LacZ Images Wholemount

7 Images

Human diseases caused by Tmem132a 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tmem132a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Frontal Encephalocele
Calvarial skull defect, Encephalocele, Hydrocephalus, Spina bifida, Dolichocephaly ORPHA:1931
Acalvaria
Calvarial skull defect, Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Holoprosencephaly ORPHA:945
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Talipes equinovarus, Spina bifida, Smal... OMIM:211960
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Calvarial skull defect, Finger syndactyly ORPHA:1114
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Hydrocephalus, Postaxial hand polydactyly OMIM:615938
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Short ... OMIM:102510
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Thin calvarium, Single t... ORPHA:2437
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Intrauterine ... ORPHA:1327
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly, Sagittal craniosynostosi... OMIM:185900
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... OMIM:603546
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Umbilical hernia, Pre... ORPHA:380
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Cr... OMIM:614416
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly ORPHA:2935
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Oxycephaly, Preaxial foot polyd... ORPHA:65759
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Syndactyly, Y-shaped meta... OMIM:175700
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spinal Muscular Atrophy With Impaired Intellectual Development
Syndactyly OMIM:271109
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Brachydactyly, Metacarpal synostosis ORPHA:35099
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Mesomelic/rhi... ORPHA:2839
Fountain Syndrome
Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ... ORPHA:3219
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Schisis Association
Micromelia, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... ORPHA:2633
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Syringomyelia, Opisthotonus, Hydrocephalus, Spina bifida OMIM:207950
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Plagiocephaly, Syndactyly, Tapered finger OMIM:618725
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Chromosome 17P13.1 Deletion Syndrome
Plagiocephaly, Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Turricepha... OMIM:613776
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Bilateral single transver... ORPHA:1120
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the elbow ORPHA:3268
Summitt Syndrome
Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Bra... ORPHA:3210
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Intrauterine growth r... OMIM:600325
Muenke Syndrome
Coronal craniosynostosis, Broad thumb, Plagiocephaly, Clinodactyly, Short middle phalanx of toe, ... OMIM:602849
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Finger syndactyly, Micromelia, Intrauterine growth retardation, Encephalocele,... ORPHA:1908
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Pfeiffer Syndrome Type 1
Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t... ORPHA:93258
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Spindle-shaped ... ORPHA:166024
Craniosynostosis, Philadelphia Type
Craniosynostosis, Finger syndactyly ORPHA:1527
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Brachycephaly, Finger syndactyly ORPHA:1514
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Potocki-Shaffer Syndrome
Parietal foramina, Single transverse palmar crease, Turricephaly, Brachycephaly, 2-5 finger cutan... OMIM:601224
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida ORPHA:1104
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Spina bifida ORPHA:2345
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... OMIM:225280
Intellectual Developmental Disorder, Autosomal Dominant 72
Broad palm, Spina bifida OMIM:620439
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, 2-3 finger syn... ORPHA:3152
Trisomy 20P
Plagiocephaly, Finger syndactyly, Preaxial hand polydactyly, Umbilical hernia, Camptodactyly of f... ORPHA:261318
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Cone-shaped epiphysis, Abnormality of the wrist, Bilateral single transverse palmar creases, Abno... ORPHA:2511
Craniosynostosis 6
Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal... OMIM:616602
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Craniofrontonasal Dysplasia
Plagiocephaly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Frontal bossing, Down-slop... ORPHA:1520
Arthrogryposis, Distal, Type 4
Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes, Single tra... OMIM:609128
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Abnormal occipital bone morphology, Encephalocel... ORPHA:63259
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Gómez-López-Hernández Syndrome
Brachycephaly, Hydrocephalus, Turricephaly ORPHA:1532
Sirenomelia
Aplasia/Hypoplasia of the radius, Sirenomelia, Spina bifida ORPHA:3169
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Intrauterine growth retardation, Turricephaly, Brachycephaly, Brac... ORPHA:2145
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Pentasomy X
Small hand, Plagiocephaly, Camptodactyly of finger, Radioulnar synostosis, Hip dysplasia, Clinoda... ORPHA:11
Neu-Laxova Syndrome 2
Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Spina bifida, Rocker bottom foot OMIM:616038
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Nail-Patella Syndrome
Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Biceps aplasia, ... OMIM:161200
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Clinodactyly, Unilambdoid synostosis, Brachycephaly, Hydrocephalus, Ulnar deviatio... OMIM:618577
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger ORPHA:376
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Fro... ORPHA:1515
Cornelia De Lange Syndrome 2
Small hand, Clinodactyly, Intrauterine growth retardation, Limited elbow movement, Brachycephaly,... OMIM:300590
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Camptodactyly of finger, Intrauterine growth retardation, Brachycephaly, Hydroceph... ORPHA:272
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Umbilical hernia, Turricephaly, Bowing of the long bones, Radioulnar synostosis, ... ORPHA:171839
Muenke Syndrome
Coronal craniosynostosis, Cone-shaped epiphysis, Plagiocephaly, Carpal synostosis, Brachycephaly,... ORPHA:53271
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Spinal dysraphism, Sandal gap, Cranial hyperostosis, Tethered cord OMIM:612918
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Hallermann-Streiff Syndrome
Slender long bone, Thin calvarium, Scaphocephaly, Parietal bossing, Abnormality of the hand, Brac... OMIM:234100
Mosaic Trisomy 9
Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Micromelia, Intrauterine growth ... ORPHA:99776
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Plagiocephaly, Brachycephaly, Dolichocephaly, Proximal placement of thumb OMIM:615433
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Rhizomelia, Plagiocephaly, Short thumb, Prominent fingertip pads, Single transv... OMIM:618821
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... OMIM:300244
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Small hand, Plagiocephaly, Prominent occiput, Dolichocephaly, Brachycephaly, Hip dysplasia, Clino... OMIM:618672
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metat... OMIM:605282
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Plagiocephaly, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial poly... OMIM:619721
Trisomy 18
Deviation of finger, Camptodactyly of finger, Intrauterine growth retardation, Abnormal hip bone ... ORPHA:3380
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly ORPHA:178377
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput ORPHA:46
Laurence-Moon Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Brachycephaly, Hand polydactyly, B... ORPHA:2377
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Turricephaly, Brachycephaly, Abnormal metacarpal morphology, Hydrocephalus, Brachydactyly, Fronta... ORPHA:93262
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Polydactyly, Down-sloping shoulders, Short 4th me... OMIM:109400
Limb Body Wall Complex
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s... ORPHA:2369
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly, Limb tremor OMIM:300699
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Bicoronal synostosis, Brachycephaly, Spina bifida occulta, Flat occiput OMIM:618736
White Forelock With Malformations
Spina bifida occulta, Clinodactyly of the 5th finger, Dolichocephaly, Finger syndactyly ORPHA:2475
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Brachycephaly, Triphal... OMIM:604757
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh... OMIM:113000
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly, Hip subluxation OMIM:620200
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... ORPHA:2092
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Elbow flexion contracture, Scaphocephaly, Acetabular dysplasia, Hip contracture, W... ORPHA:1143
Schizophrenia 1
Frontal bossing, Flat occiput, Short proximal phalanx of the 4th toe, Syndactyly OMIM:181510
Cutis Laxa, Autosomal Recessive, Type Iie
Copper beaten skull, Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finge... OMIM:619451
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Plagiocephaly, Brachycephaly, Brachydactyly, Clinodactyly of the ... ORPHA:2163
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Deep palmar crease, Brachycephaly, Broad palm,... OMIM:602342
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Metaphyseal cupping, Plagiocephaly, Short middle phalanx of finge... OMIM:618853
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy... OMIM:114290
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... ORPHA:950
Pseudodiastrophic Dysplasia
Rhizomelia, Elbow dislocation, Talipes equinovarus, Phalangeal dislocation, Brachycephaly, Campto... OMIM:264180
Monosomy 5P
Intrauterine growth retardation, Finger syndactyly, Small hand ORPHA:281
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Neuralgic Amyotrophy
Upper limb amyotrophy, Scapular winging, Syndactyly ORPHA:2901
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Brachycephaly, Frontal bossing OMIM:264470
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Hydrocephalus OMIM:612247
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Excessive wrinkling of palmar skin, Deep palma... ORPHA:487825
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Trigonocephaly, Arach... ORPHA:2994
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Intellectual Developmental Disorder, Autosomal Dominant 26
Umbilical hernia, Intrauterine growth retardation, Decreased palmar creases, Brachycephaly, Clino... OMIM:615834
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Diaphyseal undertubulation, Finger joint hypermobility, Dislocate... OMIM:620663
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Clinodactyly of... ORPHA:1393
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ... ORPHA:2251
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange... ORPHA:94066
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Charlie M Syndrome
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly ORPHA:1406
Pde4D Haploinsufficiency Syndrome
Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short middle phalanx of f... ORPHA:439822
2Q32Q33 Microdeletion Syndrome
Toe clinodactyly, Broad thumb, Arachnodactyly, Talipes equinovarus, Brachycephaly, Clinodactyly o... ORPHA:251019
Clark-Baraitser Syndrome
Sandal gap, Brachycephaly, Dolichocephaly, Clinodactyly OMIM:617752
Cartilage-Hair Hypoplasia
Small hand, Spinal dysraphism, Abnormal pelvic girdle bone morphology, Rhizomelia, Abnormal diaph... ORPHA:175
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Short foot, Plagiocephaly, Broad palm, Short palm OMIM:614563
Cloacal Exstrophy
Myelomeningocele, Abnormal tibia morphology, Talipes equinovarus, Spina bifida, Abnormal fibula m... ORPHA:93929
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Brachycephaly OMIM:615985
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Intrauterine growth retardation, Overlapping fingers, Overlapping toe, Post... OMIM:618142
Atelosteogenesis Type Ii
Elbow dislocation, Genu valgum, Broad phalanx, Bilateral talipes equinovarus, Short metacarpal, P... ORPHA:56304
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, Brachycephaly, Broad thumb, Frontal bossing OMIM:617364
Hoxha-Aliu Syndrome
Short fifth metatarsal, Short distal phalanx of finger, Abnormal epiphysis morphology, Short 4th ... OMIM:620662
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Limited elbow extension, Brachycephaly, Clinodactyly of the 5th finge... OMIM:300882
Neu-Laxova Syndrome
Micromelia, Intrauterine growth retardation, Prominent occiput, Opisthotonus, Spina bifida, Large... ORPHA:2671
Jacobsen Syndrome
Toe clinodactyly, Toe syndactyly, Finger syndactyly, Short toe, Long hallux, Intrauterine growth ... ORPHA:2308
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syringomyelia, Congenital bilateral hip dislocation, Dystonia, Syndactyly ORPHA:404451
ERI1-related disease
Slender metacarpals, Oligodactyly, Intrauterine growth retardation, Clinodactyly of the 5th finge... OMIM:608739
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormality of the wrist, Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb ORPHA:1825
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Frontal bossing, Anterior plagiocephaly, Abnormal femo... ORPHA:163649
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Plagiocephaly, Spina bifida, Torticollis, Dolichocephaly, Frontal bossing, Tethered cord, Tapered... OMIM:619480
Diabetic Embryopathy
Spinal dysraphism, Frontal bossing, Hydrocephalus ORPHA:1926
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Arachnodactyly, Talipes equinovarus, Brachycephaly, Adducted thumb, Camptodactyly, Bilateral tali... OMIM:615539
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Clubbing of toes, Toe syndactyly, Aplasia/Hypoplasia of the radius... ORPHA:84
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Brachycephaly, Tapered finger ORPHA:352530
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Trigonocephaly, Intrauterine growth retardation, Overlapping toe, Postaxial polydac... OMIM:613792
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Intrauterine growth retardation, Single transverse palma... OMIM:272440
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short 5th finger, Broad thumb, Broad hallux, Preaxial hand polydactyly, Overlapping toe, 2-3 toe ... ORPHA:508498
Robinow-Sorauf Syndrome
Broad thumb, Plagiocephaly, Broad hallux, Duplication of the distal phalanx of the hallux, Hallux... OMIM:180750
Vulto-Van Silfhout-De Vries Syndrome
2-3 toe cutaneous syndactyly, Brachycephaly, Frontal bossing, Prominent fingertip pads OMIM:615828
Non-Distal Duplication 10Q
Brachycephaly, Frontal bossing ORPHA:1695
Houge-Janssens Syndrome 2
Plagiocephaly, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hydrocephalus, H... OMIM:616362
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... OMIM:619217
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Osteol... ORPHA:88630
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, Wide pubi... OMIM:620073
Contractural Arachnodactyly, Congenital
Ulnar deviation of finger, Elbow flexion contracture, Scaphocephaly, Limited elbow extension, Hip... OMIM:121050
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Broad thumb, Toe syndactyly, Flat occiput, Intrauterine growth retardation, Overlapping toe, Arac... ORPHA:505237
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Brachycephaly, Athetosis, Choreoathetosis OMIM:309541
Hypomelanosis Of Ito
Radial deviation of finger, Hand polydactyly, Clinodactyly, Syndactyly OMIM:300337
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tremor, 2-3 toe syndactyly, Brachycephaly, Limb tremor, Long fingers, Tapered finger OMIM:218000
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Camptobrachydactyly
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... ORPHA:1319
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Brachycephaly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Bowing of the long bone... ORPHA:2097
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Talipes equinovarus, Brachycephaly OMIM:619972
6P22 Microdeletion Syndrome
Hydrocephalus, Finger syndactyly, Clinodactyly ORPHA:251046
Kury-Isidor Syndrome
Finger syndactyly, Frontal bossing, Talipes equinovarus, Brachycephaly, Brachydactyly, Hip dyspla... OMIM:619762
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Slender long bone, Trigonocephaly, Decreased calvarial ossification, Brachydactyly... OMIM:618265
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero... OMIM:207410
Band Heterotopia
Plagiocephaly, Hydrocephalus OMIM:600348
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly ORPHA:2528
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:1788
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Small hand, Plagiocephaly, Sandal gap, Clinodactyly, Short foot, Tapered finger OMIM:618089
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Narrow palm, Holoprosencephaly, Syndactyly ORPHA:1445
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Plagiocephaly, Intrauterine growth retardation, Hip contracture, Brachycephaly, Frontal bossing, ... OMIM:616801
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Arachnodactyly, Clinodactyly, Tremor, Syndactyly OMIM:619092
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Prominent occiput, Brachycephaly, Hydrocephalus, Syndactyly OMIM:220210
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Small placenta, Intrauterine growth retardation, Polydactyly, Cli... ORPHA:397590
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Umbilical hernia, Intrauterine growth retardation, Talipes equinovaru... OMIM:219150
Femoral-Facial Syndrome
Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Preaxial hand polydactyly, Campto... OMIM:134780
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Hydrocephalus, Syndactyly OMIM:602501
Weaver Syndrome
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Talipes equinovarus, Large h... ORPHA:3447
Cleidocranial Dysplasia
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu... ORPHA:1452
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Prominent occiput, Postaxial polydactyly, Brachydactyly, Hypoplasia... OMIM:617895
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,... ORPHA:93259
Osteopathia Striata-Cranial Sclerosis Syndrome
High iliac wing, Coarse metaphyseal trabecularization, Frontal bossing, Facial hyperostosis, Thic... ORPHA:2780
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Neu-Laxova Syndrome 1
Hydranencephaly, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, ... OMIM:256520
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Ulnar deviation of finger, Abnormal distal phalanx morphology of finger, Abnormali... ORPHA:1387
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Talipes equinovarus, Cutane... OMIM:236500
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Brachycephaly, Palmoplantar cutis laxa, Abnormal digit morphology OMIM:268850
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Intrauterine growth retardation, Calvarial skull defect, Encephalocele,... ORPHA:228390
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of the long bones, Postaxial ... OMIM:603194
Vacterl With Hydrocephalus
Intrauterine growth retardation, Hypoplasia of the radius, Spina bifida, Hydrocephalus, Aqueducta... ORPHA:3412
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Intrauterine growth retardation, Radi... OMIM:192350
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Umbilical hernia, Frontal bossing, Intrauterine growth retardation, Brachycephaly, Brachydactyly,... ORPHA:1292
6Q25 Microdeletion Syndrome
Clinodactyly of the 5th finger, Rocker bottom foot, Plagiocephaly, Camptodactyly of finger ORPHA:251056
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Frontal bossing, Abnormal hip bone morphology, Brachyc... ORPHA:1488
Intellectual Developmental Disorder, Autosomal Dominant 66
Toe clinodactyly, Plagiocephaly, Arachnodactyly, Brachycephaly, Clinodactyly of the 5th finger OMIM:619910
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Clinodactyly, Umbilical hernia, Abnormality of the hand, Brachycephaly, Camptodact... ORPHA:369891
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Skull asymmetry, Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Brac... OMIM:614701
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly, Sandal gap OMIM:615516
Alkuraya-Kucinskas Syndrome
Hand clenching, Plagiocephaly, Clinodactyly, Overlapping toe, Overlapping fingers, Talipes equino... OMIM:617822
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Clinodactyly, Talipes equinovarus, Brachycephaly, Frontal bossing OMIM:616789
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Brachycephaly, Hydrocephalus, Abnormal shape of the occiput, Frontal bossing OMIM:218350
Inverted Duplicated Chromosome 15 Syndrome
2-3 toe syndactyly, Talipes equinovarus, Brachycephaly, Brachydactyly, Clinodactyly of the 5th fi... ORPHA:3306
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Frontal bossing, Aplasia of the proximal phalanges of the hand, Hypoplasia of ... ORPHA:2256
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Brachyturricephaly, Ethmoidal encephalocele, Short foot, Fr... OMIM:607597
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Talipes equinovarus, Dislocated radial head, Syndactyly, Rad... OMIM:180849
Cebalid Syndrome
Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly OMIM:618774
Achard Syndrome
Arachnodactyly, Brachycephaly, Broad skull OMIM:100700
Curry-Jones Syndrome
Broad thumb, Unicoronal synostosis, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot ... OMIM:601707
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Small hand, Trigonocephaly, Scaphocephaly, Bilateral single transverse palmar creases, Brachyceph... ORPHA:459061
Pfeiffer Syndrome
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Turricephaly, Brachydactyly, Hip dysp... ORPHA:710
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Phakomatosis Pigmentokeratotica
Hemiatrophy, Spina bifida ORPHA:2874
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p... ORPHA:1553
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Broad thumb, Flat occiput, Intrauterine growth retardation, Overlapping toe, Down-sloping shoulde... OMIM:617452
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Encephalocele, T... ORPHA:1827
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal calvaria morphology, Synostosis of carpal bones, Finger syndactyly, Camptodactyly of fin... ORPHA:1323
8Q12 Microduplication Syndrome
Brachycephaly, Short foot ORPHA:228399
Silver-Russell Syndrome 1
Intrauterine growth retardation, Clinodactyly of the 5th finger, Short distal phalanx of the 5th ... OMIM:180860
Chromosome 13Q33-Q34 Deletion Syndrome
Short thumb, Trigonocephaly, Overlapping toe, Distally placed thumb, Encephalocele, Single transv... OMIM:619148
Coffin-Siris Syndrome 6
Plagiocephaly, Brachydactyly, Frontal bossing, Clinodactyly OMIM:617808
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Limb-Mammary Syndrome
Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly OMIM:603543
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly, Torticollis OMIM:607313
Larsen-Like Syndrome
Radial deviation of the 4th finger, Talipes equinovarus, Brachycephaly, Bipartite calcaneus, Clin... OMIM:608545
Acrofrontofacionasal Dysostosis 2
Broad thumb, Broad hallux, Brachycephaly, Hand polydactyly, Syndactyly OMIM:239710
Alg3-Cdg
Metaphyseal chondrodysplasia, Dystonia, Abnormal limb bone morphology, Neural tube defect ORPHA:79321
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Clinodactyly of... ORPHA:96148
2Q23.1 Microdeletion Syndrome
Sandal gap, Brachycephaly, Hip dysplasia, Clinodactyly of the 5th finger, Short palm ORPHA:228402
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly OMIM:619091
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Small hand, Plagiocephaly, Frontal bossing, Elbow flexion contracture, Intrauterine growth retard... ORPHA:371364
Filippi Syndrome
Finger syndactyly, Intrauterine growth retardation, Limb dystonia, Bilateral single transverse pa... ORPHA:3255
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... OMIM:252100
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Plagiocephaly, Sandal gap, Brachycephaly, Clinodactyly of the 5th finger, Frontal bossing, Tapere... OMIM:618430
Lessel-Kreienkamp Syndrome
Clinodactyly of the 5th finger, Scaphocephaly, Plagiocephaly, Frontal bossing OMIM:619149
Monosomy 18P
Brachycephaly, Holoprosencephaly, Brachydactyly, Generalized dystonia ORPHA:1598
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol... ORPHA:3258
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Adams-Oliver Syndrome 6
Foot oligodactyly, Calvarial skull defect, Brachydactyly, Syndactyly OMIM:616589
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... ORPHA:1106
Rubinstein-Taybi Syndrome 2
Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Synda... OMIM:613684
Bresek Syndrome
Intrauterine growth retardation, Plagiocephaly, Hydrocephalus, Postaxial hand polydactyly ORPHA:85284
Crouzon Syndrome
Multiple suture craniosynostosis, Turricephaly, Brachycephaly, Hydrocephalus, Frontal bossing ORPHA:207
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina ORPHA:52022
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Chromosome 2Q37 Deletion Syndrome
Short toe, Type E brachydactyly, Brachycephaly, Short fourth metatarsal, Short phalanx of finger,... OMIM:600430
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, 2-3 finger syndactyly, Brachyc... ORPHA:435638
Chromosome 5P13 Duplication Syndrome
Single transverse palmar crease, Turricephaly, Brachycephaly, Long fingers, Large hands, Craniosy... OMIM:613174
Lujan-Fryns Syndrome
Arachnodactyly, Brachycephaly, Brachydactyly, Camptodactyly of finger ORPHA:776
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Broad distal phalanx of finger, Enlarged interphalangeal joints, Palmar edema, Abnormality of the... ORPHA:2988
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Brachyceph... ORPHA:2211
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... OMIM:614091
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac... ORPHA:1784
Poland Syndrome
Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly OMIM:173800
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Brachycephaly, Hip dislocation, Coxa valga OMIM:109120
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Talipes equinovarus, Plagiocephaly OMIM:617481
Acrodysostosis 1 With Or Without Hormone Resistance
Calvarial hyperostosis, Long hallux, Intrauterine growth retardation, Epiphyseal stippling, Short... OMIM:101800
Antley-Bixler Syndrome
Camptodactyly of finger, Femoral bowing, Turricephaly, Arachnodactyly, Brachycephaly, Elbow ankyl... ORPHA:83
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Down-sloping shou... ORPHA:392
Sacral Defect With Anterior Meningocele
Hydromyelia, Tethered cord, Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes equi... OMIM:600145
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Toe syndactyly, Finger syndactyly, Hand polydactyly, Hydrocephalus, Foot polydactyly, Frontal bos... ORPHA:60040
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single transverse pa... OMIM:612651
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly OMIM:114150
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Finger syndactyly, Sandal gap, Intrauterine growth retardation, Deep palmar cre... ORPHA:254346
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Syndactyly OMIM:613576
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Large placenta, Sma... ORPHA:96334
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Intrauterine growt... ORPHA:1005
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Plagiocephaly, Genu valgum, Delay... OMIM:620099
Al Kaissi Syndrome
Small hand, Clinodactyly, Intrauterine growth retardation, Brachycephaly, Deep palmar crease, Tor... OMIM:617694
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Plagiocephaly, Intrauterine growth retardation, Acetabular dysplasia, Hydrocephalus, Hip dysplasi... OMIM:619833
Paternal Uniparental Disomy Of Chromosome 5
Rhizomelic arm shortening, Posterior plagiocephaly, Short lower limbs, Abnormal fibular epiphysis... ORPHA:96190
Adams-Oliver Syndrome
Short distal phalanx of finger, Finger syndactyly, Absent hand, Calvarial skull defect, Encephalo... ORPHA:974
Developmental And Epileptic Encephalopathy 1
Dystonia, Plagiocephaly, Choreoathetosis OMIM:308350
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Brachycephaly, Hydrocephalus, Broad toe, Hip dysplasia, Short 2nd toe, Clinodac... OMIM:612582
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Single transverse palma... ORPHA:915
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Intrauterine growth retardation, Pr... ORPHA:2311
Recombinant Chromosome 8 Syndrome
Camptodactyly, Clinodactyly of the 5th finger, Joint contracture of the hand, Brachycephaly OMIM:179613
Pfeiffer Syndrome Type 3
Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Brachyturricephaly, Hallux varus, Sho... ORPHA:93260
Periventricular Nodular Heterotopia 1
Syndactyly, Clinodactyly, Short finger OMIM:300049
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly OMIM:618859
Ritscher-Schinzel Syndrome 4
Plagiocephaly, Narrow palm, Brachycephaly, Ulnar deviation of the hand, Hip dysplasia, Athetosis,... OMIM:619435
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Talipes equinovarus, Radioulnar synostosis, Broad distal phalan... OMIM:245600
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... OMIM:605432
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... ORPHA:3103
Acrofacial Dysostosis, Catania Type
Small hand, Finger syndactyly, Intrauterine growth retardation, Clinodactyly of the 5th finger, B... ORPHA:1786
49,Xxxxy Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Tremor, Down-sloping shoulders, Talipes equinov... ORPHA:96264
Grange Syndrome
Short palm, Syndactyly ORPHA:79094
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Decreased fibular diameter, Intrauterine growth retardation, Brachycephaly, Li... OMIM:616897
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without