Cytoscape Web
Click node...

Split hand-split foot malformation
6 OMIM references -
5 associated genes
170 connected diseases
9 signs/symptoms
Disease Type of connection
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Familial pancreatic carcinoma
Amyotrophic lateral sclerosis
Giant cell glioblastoma
B-cell chronic lymphocytic leukemia
Precursor B-cell acute lymphoblastic leukemia
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Desmoid tumor
Adrenocortical carcinoma
Essential thrombocythemia
Li-Fraumeni syndrome
Papilloma of choroid plexus
Uveal coloboma - cleft lip and palate - intellectual deficit
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Hypohidrotic ectodermal dysplasia with immunodeficiency
Anaplastic ependymoma
Familial isolated dilated cardiomyopathy
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Cardiofaciocutaneous syndrome
Precursor T-cell acute lymphoblastic leukemia
Costello syndrome
Linear nevus sebaceus syndrome
22q11.2 deletion syndrome
Primary peritoneal carcinoma
46,XY partial gonadal dysgenesis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Autosomal dominant nonsyndromic intellectual deficit
Common variable immunodeficiency
Fanconi anemia
Hepatocellular carcinoma, childhood-onset
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Laron syndrome
Myhre syndrome
Short stature due to partial GHR deficiency
Syndromic multisystem autoimmune disease due to Itch deficiency
APC-related attenuated familial adenomatous polyposis
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Turcot syndrome with polyposis
Barth syndrome
Left ventricular noncompaction
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal acantholytic epidermolysis bullosa
Naxos disease
Familial capillary hemangioma
Acrocallosal syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Frontotemporal dementia with motor neuron disease
Juvenile amyotrophic lateral sclerosis
Myxoid / round cell liposarcoma
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Short stature due to growth hormone qualitative anomaly
X-linked distal arthrogryposis multiplex congenita
2q32q33 microdeletion syndrome
2q33.1 microdeletion syndrome
Autosomal agammaglobulinemia
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Distal myopathy with posterior leg and anterior hand involvement
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolytic palmoplantar keratoderma
Familial isolated congenital asplenia
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Herpetic encephalitis
Isolated ATP synthase deficiency
Localized epidermolysis bullosa simplex
Muscle filaminopathy
Primary familial polycythemia
Translocation renal cell carcinoma
X-linked osteoporosis with fractures
Acute promyelocytic leukemia
Familial melanoma
Mantle cell lymphoma
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Multiple myeloma
Phakomatosis pigmentokeratotica
Burkitt lymphoma
Desmoplastic / nodular medulloblastoma
Familial multiple meningioma
Medulloblastoma with extensive nodularity
17q11 microdeletion syndrome
Aarskog-Scott syndrome
Angelman syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Autoimmune lymphoproliferative syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal recessive early-onset inflammatory bowel disease
Autosomal recessive limb-girdle muscular dystrophy type 2S
Autosomal recessive primary microcephaly
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency
Cabezas syndrome
Cerebellar ataxia - hypogonadism
Chronic mucocutaneous candidiasis
Distal hereditary motor neuropathy type 7
Ear-patella-short stature syndrome
Ewing sarcoma
Familial advanced sleep-phase syndrome
Hereditary nonpolyposis colon cancer
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Incontinentia pigmenti
Intellectual deficit, X-linked, Turner type
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Johanson-Blizzard syndrome
Juvenile myelomonocytic leukemia
Juvenile rheumatoid factor-negative polyarthritis
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Muscular dystrophy, Selcen type
Noonan syndrome
Oculocerebrofacial syndrome, Kaufman type
Oligoarticular juvenile arthritis
Papillary or follicular thyroid carcinoma
Parkinsonian-pyramidal syndrome
Pediatric systemic lupus erythematosus
Perry syndrome
Peutz-Jeghers syndrome
Pilocytic astrocytoma
Primary ciliary dyskinesia
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 26
Syndromic diarrhea
Weaver syndrome
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Denys-Drash syndrome
Desmoplastic small round cell tumor
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Frasier syndrome
Meacham syndrome
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
WAGR syndrome
- Ectrodactyly
- Lobster-claw deformity
- Split hand foot malformation

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
No MeSH references

Very frequent
- Autosomal dominant inheritance
- Oligodactyly / ectrodactyly of fingers

- Syndactyly of fingers / interdigital palm

- Aniridia / iris hypoplasia
- Autosomal recessive inheritance
- Hand agenesis / absence
- Sensorineural deafness / hearing loss
- Trident hand / split hand / abnormal median ray
- X-linked recessive inheritance