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
spina bifida Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal neural tube closure Tmem132atm1b(KOMP)Wtsi HOM E12.5 0.00
unresponsive to tactile stimuli 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
syndactyly Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
preweaning lethality, complete penetrance Tmem132atm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal tail morphology Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
spina bifida Tmem132atm1b(KOMP)Wtsi HOM E15.5 0.00
abnormal facial morphology Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
syndactyly Tmem132atm1b(KOMP)Wtsi HOM E15.5 0.00
abnormal head shape Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal tail morphology Tmem132atm1b(KOMP)Wtsi HOM E12.5 0.00
abnormal embryo size Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
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
unresponsive to tactile stimuli Tmem132atm1b(KOMP)Wtsi HET E18.5 0.00
abnormal limb morphology Tmem132atm1b(KOMP)Wtsi HOM E18.5 0.00
abnormal bone structure Tmem132atm1b(KOMP)Wtsi HET   Early adult 4.65×10-05

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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
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount 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)
Bone N/A heterozygote 0.0% (0 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)
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)
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)
Ovary 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)
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)
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)
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
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 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

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 Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

Adult LacZ

LacZ Images Wholemount

7 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

Embryo LacZ

LacZ images wholemount

4 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
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Oxycephaly,... OMIM:201020
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Calvarial skull defect, Finger syndactyly ORPHA:1114
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... OMIM:185750
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Calvarial skull defect ORPHA:945
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Synostosis of carpal bones, Finger syndactyly, Spina bifi... ORPHA:957
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... ORPHA:1891
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Joint contracture of the hand, Spina bifida, Camptodactyly, Small thenar emi... OMIM:211960
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Frontal Encephalocele
Dolichocephaly, Spina bifida, Hydrocephalus, Calvarial skull defect ORPHA:1931
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Nevus Comedonicus Syndrome
Toe syndactyly, Preaxial polydactyly, Finger syndactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Metaphyseal irregularity, Streaky metaphyseal sclerosis, Carpal bone hypoplasia, Irregular epiphy... OMIM:603546
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Bifid distal phalanx of the thumb, Spina bifida occulta a... OMIM:102510
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Sagittal craniosynostosis, Distal symphalangism of han... OMIM:185900
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Wahab Syndrome
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... OMIM:615170
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Toe syndactyly, Intrauterine growth retardation, Brachycephaly, Cubitus valgus, Sp... ORPHA:1327
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Brachycephaly, Trigonocephaly, Broad phalanx, Prominent metopic ridge OMIM:275595
Czeizel-Losonci Syndrome
Single transverse palmar crease, Radial deviation of the thumb, Myelomeningocele, 3-4 finger synd... ORPHA:2437
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Syndactyly Type 3
Short toe, Camptodactyly of finger, Finger syndactyly ORPHA:93404
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Toe syndactyly, Broad thumb, Craniosynostosis, Finger syndactyly, Frontal b... ORPHA:380
Brachydactyly Type A7
Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha... ORPHA:93397
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly ORPHA:2935
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Joint contracture of the hand, Hydrocephalus, Broad hallux, Delayed cranial... OMIM:175700
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Brachydactyly, Type A2
Hallux valgus, 2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ap... OMIM:112600
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Cloverleaf skull, Craniosynostosis, Oxycephaly,... ORPHA:65759
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Sagittal cran... OMIM:614188
Summitt Syndrome
Craniosynostosis, Syndactyly, Oxycephaly OMIM:272350
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly ORPHA:2476
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... ORPHA:157801
Liebenberg Syndrome
Elbow flexion contracture, Metaphyseal widening, Radially deviated wrists, 2-3 finger syndactyly,... OMIM:186550
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Split-Hand/Foot Malformation 1
Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad hallux, Foot ... OMIM:183600
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Fountain Syndrome
Metaphyseal dysplasia, Large hands, Coarse metaphyseal trabecularization, Brachydactyly, Spina bi... ORPHA:3219
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Isolated Brachycephaly
Midface retrusion, Brachydactyly, Metacarpal synostosis, Brachycephaly ORPHA:35099
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Cutaneous finger syndactyly, Myelomeningocele, Split hand, Hydrocephalus, Spina bifida occulta, S... OMIM:183802
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Syndactyly, Type V
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... OMIM:186300
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Abnormality of the ulna, Genu varum, Brachycephaly, Aplasia/Hypoplasia of the ... ORPHA:2633
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of the elbow, Radioulnar synostosis ORPHA:3268
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Split-Hand/Foot Malformation 6
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot OMIM:225300
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Pelvis-Shoulder Dysplasia
Hydranencephaly, Talipes equinovarus, Absent proximal finger flexion creases, Prominent protrudin... ORPHA:2839
Craniosynostosis, Philadelphia Type
Craniosynostosis, Finger syndactyly ORPHA:1527
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Chiari Malformation Type Ii
Opisthotonus, Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus OMIM:207950
Summitt Syndrome
Plagiocephaly, Craniosynostosis, Finger syndactyly, Genu valgum, Camptodactyly of finger, Short p... ORPHA:3210
Aminopterin Syndrome Sine Aminopterin
Intrauterine growth retardation, Umbilical hernia, Brachycephaly, Arachnodactyly, Joint contractu... OMIM:600325
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Delayed epiphyseal ossification, Genu valgum, Frontal bossing, Cutaneous s... ORPHA:166024
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Toe syndactyly, Midface retrusion, Brachycephaly, Aplasia/Hypoplasia of the... ORPHA:93258
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, 3-4... OMIM:609432
Brachydactyly Type B2
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... ORPHA:140908
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Proximal placement of thumb, Abnormal thumb morphology, Bilateral single tra... ORPHA:1120
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Joint contracture of the hand, Aplas... OMIM:113000
Isolated Cloverleaf Skull Syndrome
Midface retrusion, Craniosynostosis, Finger syndactyly ORPHA:2343
Humero-Radial Synostosis
Meningocele, Tarsal synostosis, Elbow ankylosis, Aplasia/Hypoplasia of the thumb, Abnormality of ... ORPHA:3265
Muenke Syndrome
Plagiocephaly, Short middle phalanx of finger, Midface retrusion, Capitate-hamate fusion, Brachyc... OMIM:602849
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Schisis Association
Spina bifida, Micromelia, Anencephaly ORPHA:63862
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
Sclerosteosis
Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand, Craniofacial hyper... ORPHA:3152
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Brachycephaly, Finger syndactyly ORPHA:1514
Mental Retardation, Autosomal Dominant 4
Midface retrusion, Syndactyly, Short toe OMIM:612581
Caudal Duplication
Spinal cord lesion, Spina bifida, Myelomeningocele ORPHA:1756
Craniorachischisis
Sirenomelia, Myelomeningocele, Anencephaly, Bifid sternum, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Sandal gap, Tethered cord, Cranial hyperostosis, Spinal dysraphism OMIM:612918
Congenital Vertical Talus
Equinus calcaneus, Myelomeningocele, Rocker bottom foot ORPHA:178382
Jackson-Weiss Syndrome
Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Short metatarsal, Sym... ORPHA:1540
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... OMIM:274000
Proximal Symphalangism
Tarsal synostosis, Elbow ankylosis, Metacarpophalangeal synostosis, Synostosis of carpal bones, F... ORPHA:3250
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Intrauterine growth retardation, Anencephaly, Aplasia/Hypoplasia of the thumb, Holop... ORPHA:1908
Brachydactyly, Type B2
Tarsal synostosis, Cutaneous finger syndactyly, Proximal symphalangism of hands, Absent phalangea... OMIM:611377
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Abnormality of finger, Abn... ORPHA:2511
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida ORPHA:1104
Jackson-Weiss Syndrome
Broad metatarsal, 2-3 toe syndactyly, Short metatarsal, Craniosynostosis, Calcaneonavicular fusio... OMIM:123150
Isolated Klippel-Feil Syndrome
Spina bifida, Abnormal shoulder morphology ORPHA:2345
Craniosynostosis 2
Brachyturricephaly, Triphalangeal thumb, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal... OMIM:604757
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the upper limb... ORPHA:2141
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Trisomy 20P
Plagiocephaly, Brachycephaly, Finger syndactyly, Frontal bossing, Spina bifida, Camptodactyly of ... ORPHA:261318
Gordon Syndrome
Clinodactyly of the 5th finger, Camptodactyly of finger, Finger syndactyly ORPHA:376
Cranioectodermal Dysplasia
Rhizomelia, Craniosynostosis, Abnormality of the metaphysis, Finger syndactyly, Frontal bossing, ... ORPHA:1515
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Metaphyseal Acroscyphodysplasia
Genu varum, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses of the phala... OMIM:250215
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachycephaly, Limb undergrowth, Thin calvarium, Massively thickened long bone cortices, Micromel... OMIM:122900
Sirenomelia
Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... ORPHA:370010
Gómez-López-Hernández Syndrome
Midface retrusion, Hydrocephalus, Turricephaly, Brachycephaly ORPHA:1532
Potocki-Shaffer Syndrome
Brachycephaly, Wormian bones, Parietal foramina, Turricephaly, Brachydactyly, Single transverse p... OMIM:601224
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis OMIM:614416
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Brachycephaly, Craniosynostosis, Split hand, Finger syndactyly, ... ORPHA:2145
Pfeiffer Syndrome
Brachyturricephaly, Elbow ankylosis, Cloverleaf skull, Finger syndactyly, Syndactyly, Hydrocephal... OMIM:101600
Terminal Osseous Dysplasia
Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening, Toe clinodac... OMIM:300244
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Syndactyly, Camptodactyly, Joint contracture of the hand, Split hand OMIM:225280
Craniofrontonasal Dysplasia
Plagiocephaly, Broad hallux phalanx, Brachycephaly, Craniosynostosis, Congenital pseudoarthrosis ... ORPHA:1520
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Plagiocephaly, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndacty... OMIM:605282
Mosaic Trisomy 9
Intrauterine growth retardation, Rocker bottom foot, Talipes equinovarus, Large fontanelles, Bipa... ORPHA:99776
Nail-Patella Syndrome
Patellar aplasia, Hypoplastic radial head, Talipes equinovarus, Iliac horns, Triceps aplasia, Gle... OMIM:161200
White Forelock With Malformations
Dolichocephaly, Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly ORPHA:2475
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Midface retrusion, Brachycephaly, Unilambdoid synostosis, Hydrocephalus, Ulnar dev... OMIM:618577
Boomerang Dysplasia
Abnormality of the ulna, Abnormality of femur morphology, Finger syndactyly, Abnormality of the r... ORPHA:1263
Enlarged Parietal Foramina
Short clavicles, Myelomeningocele, Craniosynostosis, Symmetrical, oval parietal bone defects, Bro... ORPHA:60015
Spondyloperipheral Dysplasia
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... OMIM:271700
Meckel Syndrome, Type 2
Meningocele, Intrauterine growth retardation, Anencephaly, Polydactyly, Bowing of the long bones,... OMIM:603194
Schizophrenia 1
Flat occiput, Syndactyly, Frontal bossing, Short proximal phalanx of the 4th toe OMIM:181510
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Large fontanelles, Brachycephaly, Bowing of the long bones, Craniosynostosis, Hyd... ORPHA:171839
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Holoprosencephaly, Recurrent Infections, And Monocytosis
Tapered finger, Holoprosencephaly, Short finger, Brachycephaly, Short toe, Brachydactyly OMIM:610680
Craniosynostosis 6
Plagiocephaly, Brachycephaly, Craniosynostosis, Turricephaly, Delayed cranial suture closure, Spi... OMIM:616602
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Fatco Syndrome
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... ORPHA:2492
Filippi Syndrome
Intrauterine growth retardation, 2-4 toe syndactyly, Finger clinodactyly, Cutaneous syndactyly, S... OMIM:272440
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... ORPHA:2378
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Trisomy 18
Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Abnormality of the upper limb, N... ORPHA:3380
Muenke Syndrome
Tarsal synostosis, Plagiocephaly, Cone-shaped epiphysis, Brachycephaly, Carpal synostosis, Short ... ORPHA:53271
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Deviation of finger, Shallow acetabular fossae, Pseudo... OMIM:201000
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Bicoronal synostosis, Delayed closure of the anterior fontanelle, Brachycephaly, Sp... OMIM:618736
Monosomy 5P
Intrauterine growth retardation, Small hand, Finger syndactyly ORPHA:281
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Triphalangeal thumb, Trigonocephaly, Arachnodactyly, Finger syndactyly, Frontal bossing, Short di... ORPHA:2994
Charlie M Syndrome
Triphalangeal thumb, Finger syndactyly, Abnormality of the metacarpal bones, Split hand, Brachyda... ORPHA:1406
Pentasomy X
Plagiocephaly, Small hand, Short foot, Hip dysplasia, Camptodactyly of finger, Clinodactyly of th... ORPHA:11
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Hallermann-Streiff Syndrome
Brachycephaly, Metaphyseal widening, Wormian bones, Platybasia, Frontal bossing, Thin calvarium, ... OMIM:234100
Anauxetic Dysplasia 3
Plagiocephaly, Short middle phalanx of finger, Midface retrusion, Spinal cord compression, Genu v... OMIM:618853
Thoraco-Abdominal Enteric Duplication
Meningocele, Diastomatomyelia, Camptodactyly of finger ORPHA:1759
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Midface retrusion, Postaxial polydactyly, Hypoplasia of the radius, Syndactyly, Prominent occiput... OMIM:617895
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Triphalangeal thumb, Palmoplantar keratoderma, Finger syndactyly, Short thumb, Camptodactyly of f... ORPHA:2251
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Polydactyly, Palmar pits, Parietal bossing, Short distal ph... OMIM:109400
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Cornelia De Lange Syndrome 2
Intrauterine growth retardation, Brachycephaly, Small hand, Proximal placement of thumb, Short fo... OMIM:300590
Iniencephaly
Myelomeningocele, Rocker bottom foot, Talipes equinovarus, Anencephaly, Holoprosencephaly, Rhizom... ORPHA:63259
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachycephaly, Sandal gap, Syndactyly, Micromelia, Brachydactyly, Single transverse palmar crease OMIM:614800
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Craniosynostosis, Hydrocephalus, Brachycephaly OMIM:612247
Pseudodiastrophic Dysplasia
Midface retrusion, Talipes equinovarus, Brachycephaly, Rhizomelia, Frontal bossing, Camptodactyly... OMIM:264180
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Hydrocephalus, Camptodactyly of fi... ORPHA:272
Focal Dermal Hypoplasia
Toe syndactyly, Short clavicles, Abnormality of epiphysis morphology, Upper limb asymmetry, Finge... ORPHA:2092
Laurence-Moon Syndrome
Brachycephaly, Finger syndactyly, Bilateral single transverse palmar creases, Hand polydactyly, B... ORPHA:2377
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Frontal bossing, Abnormality of the metacarpal bones, Hydrocephalus, Turricephaly,... ORPHA:93262
Cerebrocostomandibular Syndrome
Meningocele, Hydranencephaly, Intrauterine growth retardation, Myelomeningocele, Spina bifida, Cl... ORPHA:1393
Acrofacial Dysostosis, Rodríguez Type
Arrhinencephaly, Hand oligodactyly, Intrauterine growth retardation, Talipes equinovarus, Aplasia... ORPHA:1788
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... OMIM:246570
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Plagiocephaly, Tapered finger, Brachycephaly, Small hand, Hip dysplasia, Dolichocephaly, Prominen... OMIM:618672
Phaver Syndrome
Broad hallux phalanx, Triphalangeal thumb, Myelomeningocele, Intrauterine growth retardation, Uln... ORPHA:2876
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormality of the wrist, Abnormal thumb morphology, Proximal placement of thumb, Finger syndactyly ORPHA:1825
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Mohr Syndrome
Bilateral postaxial polydactyly, Metaphyseal irregularity, Partial duplication of the phalanges o... OMIM:252100
Camptobrachydactyly
Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... ORPHA:1319
Limb Body Wall Complex
Short umbilical cord, Cutaneous finger syndactyly, Myelomeningocele, Anencephaly, Duplication of ... ORPHA:2369
Endove Syndrome, Limb-Only Type
Triangular tibia, Umbilical hernia, Absent proximal finger flexion creases, 3-4 finger syndactyly... OMIM:619217
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... OMIM:135750
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Brachycephaly, Holoprosencephaly, Craniosynostosis, Short distal phalanx of finger... ORPHA:2163
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Myelomeningocele, Epiphyseal stippling, Hydrocephalus, Short dis... ORPHA:1914
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Polydactyly, Small placenta, Short 5th finger, Frontal bossing, ... ORPHA:397590
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Ring Chromosome 21 Syndrome
Narrow palm, Holoprosencephaly, Small hand, Syndactyly, Clinodactyly ORPHA:1445
Hypomelanosis Of Ito
Radial deviation of finger, Syndactyly, Clinodactyly, Hand polydactyly OMIM:300337
6P22 Microdeletion Syndrome
Clinodactyly, Hydrocephalus, Finger syndactyly ORPHA:251046
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
2-3 toe syndactyly, Hydranencephaly, Talipes equinovarus, Clinodactyly of the 5th finger, Cutaneo... OMIM:236500
Grant Syndrome
Abnormality of the glenoid fossa, Large fontanelles, Brachycephaly, Bowing of the long bones, Wor... ORPHA:2097
Alkuraya-Kucinskas Syndrome
Plagiocephaly, Adducted thumb, Talipes equinovarus, Hand clenching, Overlapping fingers, Hydrocep... OMIM:617822
Phocomelia, Schinzel Type
Meningocele, Fibular aplasia, Radial bowing, Hand oligodactyly, Intrauterine growth retardation, ... ORPHA:2879
Menkes Disease
Intrauterine growth retardation, Brachycephaly, Metaphyseal widening, Wormian bones, Metaphyseal ... OMIM:309400
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Syndactyly, Clinodactyly, Arachnodactyly OMIM:619092
Cloacal Exstrophy
Myelomeningocele, Talipes equinovarus, Absent foot, Hip dislocation, Spina bifida, Abnormality of... ORPHA:93929
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Hydrocephalus, Polydactyly OMIM:602501
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Brachycephaly, Syndactyly, Hydrocephalus, Prominent occiput OMIM:220210
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Hyperextensibility of the finger joints, Rhizomelia, Clinodactyly of the 3rd finge... OMIM:618821
Jacobsen Syndrome
Broad hallux phalanx, Toe syndactyly, Intrauterine growth retardation, Trigonocephaly, Short toe,... ORPHA:2308
Holt-Oram Syndrome
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasia of the ulna, Hyp... OMIM:142900
Weaver Syndrome
Talipes equinovarus, Large hands, Abnormality of the metaphysis, Finger syndactyly, Sandal gap, C... ORPHA:3447
Moebius Syndrome
Talipes equinovarus, Hand clenching, Lower limb undergrowth, Aplasia/Hypoplasia involving the met... OMIM:157900
Triploidy
Meningocele, Intrauterine growth retardation, Holoprosencephaly, Finger syndactyly, Abnormality o... ORPHA:3376
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Brachycephaly, Narrow pelvis bone, Ulnar bowing, Arachnodactyly, Frontal boss... OMIM:207410
Acrofrontofacionasal Dysostosis 2
Brachycephaly, Wide anterior fontanel, Syndactyly, Broad hallux, Hand polydactyly, Broad thumb OMIM:239710
Cleft Palate, Cardiac Defects, And Mental Retardation
2-3 toe syndactyly, Short 5th finger, Sandal gap, Broad hallux, Broad thumb, Cutaneous syndactyly... OMIM:600987
Acrocephalopolysyndactyly Type Iii
Lower limb undergrowth, Craniosynostosis, Oxycephaly, Preaxial hand polydactyly, Syndactyly, Broa... OMIM:101120
Neu-Laxova Syndrome
Opisthotonus, Intrauterine growth retardation, Large hands, Spina bifida, Prominent occiput, Micr... ORPHA:2671
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Diaphyseal thickening, Tibial bowing, Brachycephaly, Abnormality of epiphy... ORPHA:175
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Wide proximal femoral metaphysis, Abnormality of the elbow... ORPHA:163649
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hallux valgus, Thickened calvaria, Brachycephaly, Avascular necrosis of the capital femoral epiph... OMIM:304950
Curry-Jones Syndrome
Cutaneous finger syndactyly, Broad thumb, Craniosynostosis, Syndactyly, Duplication of thumb phal... OMIM:601707
Pfeiffer Syndrome Type 2
Broad hallux phalanx, Toe syndactyly, Cloverleaf skull, Broad thumb, Small hand, Finger syndactyl... ORPHA:93259
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Toe syndactyly, Abnormality of femur morp... ORPHA:84
Pde4D Haploinsufficiency Syndrome
Broad metatarsal, Upper limb undergrowth, Short middle phalanx of finger, Thickened calvaria, Con... ORPHA:439822
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Frontal bossing, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal pha... ORPHA:2256
Diabetic Embryopathy
Frontal bossing, Spinal dysraphism, Hydrocephalus ORPHA:1926
Rubinstein-Taybi Syndrome 2
Broad thumb, Syndactyly, Broad hallux OMIM:613684
Endocrine-Cerebroosteodysplasia
Polydactyly, Ulnar deviation of the hand or of fingers of the hand, Postaxial polydactyly, Holopr... OMIM:612651
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Midface retrusion, Excessive femoral anteversion, Hitc... ORPHA:56304
Meckel Syndrome, Type 4
Meningocele, Intrauterine growth retardation, Anencephaly, Bowing of the long bones, Hydrocephalu... OMIM:611134
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Intrauterine growth retardation, Finger syndactyly, Camptodactyly of finger, Promine... ORPHA:2311
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Adducted thumb, Talipes equinovarus, Brachycephaly, Arachnodactyly, Frontal bossing, Camptodactyl... OMIM:615539
Arthrogryposis, Distal, Type 4
Tibial deviation of toes, Deviation of the 2nd toe, Talipes equinovarus, Camptodactyly of 2nd-5th... OMIM:609128
Neu-Laxova Syndrome 1
Short umbilical cord, Toe syndactyly, Hydranencephaly, Intrauterine growth retardation, Rocker bo... OMIM:256520
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, Thickened calvaria, Large fontanelles, Brachycephaly, Abnormality of the metaphysis... ORPHA:2780
Cleidocranial Dysplasia
Short clavicles, Midface retrusion, Hypoplastic scapulae, Tapered finger, Abnormality of epiphysi... ORPHA:1452
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Tapered finger, Brachycephaly, Long fingers, Limb tremor, Tremor OMIM:218000
Silver-Russell Syndrome 3
Finger clinodactyly, Syndactyly OMIM:616489
Isolated Plagiocephaly
Plagiocephaly, Midface retrusion, Frontal bossing ORPHA:35098
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Small hand, Finger syndactyly, Midface retrusion, Spina bifida occulta ORPHA:1787
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Broad thumb, Broad phalanx, Short 5th finger, Hip dislocation, Spina bifida, ... ORPHA:508498
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Intrauterine growth retardation, Synostosis of carpal bones, Finger syndactyly, Abnormality of ca... ORPHA:1323
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polydactyly, Postaxial hand polyda... OMIM:615986
Diaphanospondylodysostosis
Narrow pelvis bone, Myelomeningocele ORPHA:66637
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Single transverse palmar crease, Lobar holoprosencephaly, Brachycephaly, Skul... OMIM:614701
Acrodysostosis
Abnormality of the ulna, Cone-shaped epiphysis, Midface retrusion, Epiphyseal stippling, Brachyce... ORPHA:950
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Tapered finger, Small hand, Sandal gap, Short foot, Clinodactyly OMIM:618089
9P13 Microdeletion Syndrome
Metopic synostosis, Brachycephaly, Hand tremor, Absent palmar crease, Clinodactyly of the 5th fin... ORPHA:324313
Silver-Russell Syndrome 1
Intrauterine growth retardation, Short distal phalanx of the 5th finger, Short middle phalanx of ... OMIM:180860
Acromelic Frontonasal Dysostosis
Polydactyly, Talipes equinovarus, Brachycephaly, Preaxial polydactyly, Syndactyly OMIM:603671
Mental Retardation, Autosomal Dominant 36
Plagiocephaly, Hydrocephalus, Broad hallux, Prominent metopic ridge, Deviation of the 5th finger OMIM:616362
Multicentric Osteolysis, Nodulosis, And Arthropathy
Protrusio acetabuli, Sclerotic cranial sutures, Distal tapering of metatarsals, Metacarpal osteol... OMIM:259600
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Limb-Mammary Syndrome
Hallux valgus, Joint contracture of the hand, Split hand, Syndactyly, Camptodactyly, Split foot OMIM:603543
Acromelic Frontonasal Dysplasia
Meningocele, Talipes equinovarus, Brachycephaly, Large fontanelles, Patellar hypoplasia, Aplasia/... ORPHA:1827
Alg3-Cdg
Abnormality of limb bone morphology, Neural tube defect, Metaphyseal chondrodysplasia ORPHA:79321
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Brachycephaly, Syndactyly, Camptodactyly, Midface retrusion, Clinodactyly, Umbilic... ORPHA:369891
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Frontal bossing, Hydrocephalus,... OMIM:218350
Adams-Oliver Syndrome 6
Foot oligodactyly, Syndactyly, Brachydactyly, Calvarial skull defect OMIM:616589
Vacterl With Hydrocephalus
Arrhinencephaly, Intrauterine growth retardation, Hypoplasia of the radius, Hip dislocation, Spin... ORPHA:3412
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Intrauterine growth retardation, Brachycephaly, Postaxial polydactyly, Preaxial polydactyly, Over... OMIM:618142
Otopalatodigital Syndrome Type 2
Fibular aplasia, Tarsal synostosis, Thickened calvaria, Myelomeningocele, Large fontanelles, Bowi... ORPHA:90652
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Curry-Jones Syndrome
Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Finger syndactyly, Foot polydacty... ORPHA:1553
Pfeiffer Syndrome
Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Finger syndactyly,... ORPHA:710
Cenani-Lenz Syndrome
Toe syndactyly, Oligodactyly, Synostosis of carpal bones, Hypoplasia of the radius, Finger syndac... ORPHA:3258
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the ... ORPHA:94066
Poland Syndrome
Unilateral oligodactyly, Unilateral brachydactyly, Syndactyly, Hypoplasia of deltoid muscle OMIM:173800
Chromosome Xp11.23-P11.22 Duplication Syndrome
Syndactyly OMIM:300801
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Flat acetabular roof, Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Bowing of the lon... OMIM:614091
Vater/Vacterl Association
Patent urachus, Triphalangeal thumb, Intrauterine growth retardation, Large fontanelles, Hypoplas... OMIM:192350
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Plagiocephaly, Tapered finger, Frontal bossing, Spina bifida, Tethered cord, Dolichocephaly OMIM:619480
Pfeiffer Syndrome Type 3
Broad hallux phalanx, Toe syndactyly, Brachyturricephaly, Midface retrusion, Broad thumb, Small h... ORPHA:93260
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Toe syndactyly, Finger syndactyly, Foot polydactyly, Frontal bossing, Hydrocephalus, Hand polydac... ORPHA:60040
Bardet-Biedl Syndrome 8
Polydactyly, Brachycephaly OMIM:615985
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Dolichocephaly, Plagiocephaly, Brachycephaly OMIM:615433
Microphthalmia With Limb Anomalies
Arrhinencephaly, Talipes equinovarus, Finger syndactyly, Hydrocephalus, Short long bone, Short ti... ORPHA:1106
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Camptodactyly OMIM:614230
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Craniosynostosis, Trigonocephaly, Brachydactyly OMIM:618265
Gorlin Syndrome
Palmar pits, Brachycephaly, Arachnodactyly, Frontal bossing, Hydrocephalus, Brachydactyly ORPHA:377
Camptobrachydactyly
Congenital finger flexion contractures, Short toe, Syndactyly, Hand polydactyly, Brachydactyly OMIM:114150
Isolated Osteopoikilosis
Abnormal pelvis bone ossification, Abnormality of femur morphology, Tarsal sclerosis, Abnormality... ORPHA:166119
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Biparietal narrowing, Clinodactyly of the 5th finger ORPHA:2031
2Q37 Microdeletion Syndrome
Toe syndactyly, Small hand, Finger syndactyly, Frontal bossing, Short metacarpal, Short foot, Bil... ORPHA:1001
Aarskog-Scott Syndrome
Broad palm, Small hand, Finger syndactyly, Short foot, Camptodactyly of finger, Short palm, Clino... ORPHA:915
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Short middle phalanx of finger, Intrauterine growth retardation, Abnormality of the elbow, Synost... ORPHA:1005
Otofacioosseous-Gonadal Syndrome
Talipes equinovarus, Brachycephaly, Wormian bones, Genu valgum, Frontal bossing, Carpal synostosi... OMIM:601976
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Congenital Heart Defects And Ectodermal Dysplasia
Broad thumb, Syndactyly OMIM:617364
Larsen-Like Syndrome
Radial deviation of the 4th finger, Talipes equinovarus, Brachycephaly, Frontal bossing, Wide ant... OMIM:608545
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma OMIM:613576
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Syndactyly, Abnormal pelvis bone morphology, Short long bone, Flat ace... ORPHA:1505
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly OMIM:601163
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Limited pronation/supination of forearm, Radial bowing, Ulnar bowing, Hip dislocation, Shallow ac... OMIM:605432
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Syndactyly, Hypoplasia of the radius OMIM:212780
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Flat occiput, Broad hallux phalanx, Large fontanelles, Brachycephaly, Broad thumb, Finger syndact... ORPHA:2211
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Finger syndactyly, Split hand,... ORPHA:392
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Acrofrontofacionasal Dysostosis
Midface retrusion, Brachycephaly, Abnormality of epiphysis morphology, Short distal phalanx of fi... ORPHA:1784
Richieri-Costa/Guion-Almeida Syndrome
Abnormal digit morphology, Spina bifida occulta, Palmoplantar cutis laxa, Brachycephaly OMIM:268850
Apert Syndrome
Toe syndactyly, Brachyturricephaly, Midface retrusion, Cloverleaf skull, Large fontanelles, Aplas... ORPHA:87
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Humeroradial Synostosis With Craniofacial Anomalies
Tarsal synostosis, Plagiocephaly, Brachycephaly, Frontal bossing, Carpal synostosis, Humeroradial... OMIM:236410
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Congenital bilateral hip dislocation, Syndactyly, Syringomyelia ORPHA:404451
Ritscher-Schinzel Syndrome 2
Syndactyly, Short distal phalanx of finger, Broad hallux, Camptodactyly, Clinodactyly, Overlappin... OMIM:300963
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Intrauterine growth retardation, Short distal phalanx of toe, Brachycephaly, Symphalangism affect... ORPHA:1292
Cutis Laxa, Autosomal Recessive, Type Iiia
Intrauterine growth retardation, Adducted thumb, Talipes equinovarus, Brachycephaly, Large fontan... OMIM:219150
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Syndactyly, Mesomelia OMIM:228940
15Q24 Microdeletion Syndrome
Myelomeningocele, Small hand, Abnormality of toe, Proximal placement of thumb, Abnormal thumb mor... ORPHA:94065
Cooper-Jabs Syndrome
Brachycephaly, Proximal placement of thumb, Frontal bossing, Camptodactyly of finger, Abnormal hi... ORPHA:1488
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short 1st metacarpal, Camptoda... ORPHA:96334
Wildervanck Syndrome
Meningocele ORPHA:3456
Subependymal Nodular Heterotopia
Meningocele, Myelomeningocele ORPHA:101030
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Flat occiput, Toe syndactyly, Intrauterine growth retardation, Talipes equinovarus, Tapered finge... ORPHA:505237
Isolated Split Hand-Split Foot Malformation
Absent hand, Oligodactyly, Split hand, Finger syndactyly ORPHA:2440
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
Eem Syndrome
Ectrodactyly, Finger syndactyly ORPHA:1897
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Genu varum, Short clavicles, Intrauterine growth retardation, Metaphy... OMIM:615777
Acrofacial Dysostosis, Catania Type
Intrauterine growth retardation, Small hand, Finger syndactyly, Bilateral single transverse palma... ORPHA:1786
Contractural Arachnodactyly, Congenital
Metatarsus adductus, Adducted thumb, Congenital finger flexion contractures, Talipes equinovarus,... OMIM:121050
Distal Monosomy 10Q
Tapered finger, Brachycephaly, Short metatarsal, Prominent metopic ridge, Craniosynostosis, Sanda... ORPHA:96148
Opitz-Kaveggia Syndrome
Plagiocephaly, Umbilical hernia, Delayed closure of the anterior fontanelle, Joint contracture of... OMIM:305450
Lateral Meningocele Syndrome
Meningocele, Syringomyelia, Wormian bones, Dural ectasia, Craniofacial hyperostosis, Prominent me... ORPHA:2789
Grange Syndrome
Syndactyly, Short palm ORPHA:79094
Hamamy Syndrome
Tapered finger, Brachycephaly, Long fingers, Craniosynostosis, Down-sloping shoulders, Syndactyly... OMIM:611174
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormality of femur morphology, Limb undergrowth, Finger syndactyly, Abnormal... ORPHA:3429
Spondylocostal Dysostosis 4, Autosomal Recessive
Spina bifida occulta, Myelomeningocele OMIM:613686
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Talipes equinovarus, Brachycephaly, Frontal bossing, Clinodactyly OMIM:616789
Achard Syndrome
Arachnodactyly, Broad skull, Brachycephaly OMIM:100700
Epidermolysis Bullosa, Lethal Acantholytic
Widely spaced toes, Mitten deformity, Sandal gap, Syndactyly, Tapered distal phalanges of finger,... OMIM:609638
Filippi Syndrome
Enlarged epiphyses, Intrauterine growth retardation, Clinodactyly of the 5th toe, Finger syndacty... ORPHA:3255
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Wide anterior fontanel, Clinodactyly, Brachydactyly ORPHA:313781
Acrodysostosis 1 With Or Without Hormone Resistance
Broad palm, Intrauterine growth retardation, Epiphyseal stippling, Brachycephaly, Short metatarsa... OMIM:101800
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Brachycephaly, Trigonocephaly, Small hand, Bilateral single transverse palmar creases, Scaphoceph... ORPHA:459061
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Talipes equinovarus, Tapered finger, Trigonocephaly, Brachycephaly, Prominent metopi... OMIM:619148
Bohring-Opitz Syndrome
Broad palm, Intrauterine growth retardation, Tapered finger, Trigonocephaly, Short toe, Dislocate... OMIM:605039
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Tapered finger, Finger syndactyly, Camptodactyly, Single transverse palmar crease ORPHA:435938
Lateral Meningocele Syndrome
Meningocele, Syringomyelia, Wormian bones, Platybasia, Dural ectasia, Dolichocephaly, Umbilical h... OMIM:130720
22Q11.2 Deletion Syndrome
Meningocele, Arrhinencephaly, Intrauterine growth retardation, Occipital myelomeningocele, Talipe... ORPHA:567
Antley-Bixler Syndrome
Elbow ankylosis, Brachycephaly, Narrow pelvis bone, Craniosynostosis, Arachnodactyly, Frontal bos... ORPHA:83
Tarp Syndrome
Intrauterine growth retardation, Talipes equinovarus, Postaxial polydactyly, Large fontanelles, H... OMIM:311900
Lathosterolosis
Meningocele, Toe syndactyly, Intrauterine growth retardation, Postaxial foot polydactyly, Postaxi... ORPHA:46059
Roberts Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... ORPHA:3103
Saethre-Chotzen Syndrome
Absent first metatarsal, Toe syndactyly, Hallux valgus, Plagiocephaly, Lambdoidal craniosynostosi... OMIM:101400
Adams-Oliver Syndrome
Abnormality of the upper limb, Finger syndactyly, Absent hand, Split hand, Brachydactyly, Calvari... ORPHA:974
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Triphalangeal thumb, Pectoralis hypoplasia, Hypoplasia of the radius... OMIM:607323
Bresek Syndrome
Plagiocephaly, Intrauterine growth retardation, Hydrocephalus, Postaxial hand polydactyly ORPHA:85284
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
2Q31.1 Microdeletion Syndrome
Broad hallux phalanx, Abnormality of the ulna, Toe syndactyly, Abnormal metacarpal morphology, Ta... ORPHA:251014
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Finger syndactyly, Hydrocephalus, Short distal phalanx of finger, Apl... ORPHA:1647
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Coxa valga, Hip dislocation, Hydrocephalus, Brachycephaly OMIM:109120
3P25.3 Microdeletion Syndrome
Postaxial polydactyly, Tapered finger, Brachycephaly, Congenital pseudoarthrosis of the clavicle,... ORPHA:435638
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Brachycephaly, Craniosynostosis, Sandal gap, Finger syndactyly, ... ORPHA:254346
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Aplasia/Hypoplasia of the phalanges of the toes, Decreased calvarial ossif... OMIM:276820
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome