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Otopalatodigital syndrome type 1

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
34 signs/symptoms

Otopalatodigital syndrome type 1

LIG4 syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.63)	LIG4

Citations in the biomedical literature:

Otopalatodigital syndrome type 1		LIG4 syndrome
	Synonym(s): (no synonyms)		Synonym(s): - DNA ligase IV deficiency - Ligase 4 syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: young adult Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Otopalatodigital syndrome type 1		LIG4 syndrome
	Very frequent - Anodontia / oligodontia / hypodontia - Broad nose / nasal bridge - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hearing loss / hypoacusia / deafness - Hypertelorism - Prominent supraorbital ridge - Restricted joint mobility / joint stiffness / ankylosis - Short big toe - Wide space between 1st-2nd toes - X-linked recessive inheritance Frequent - Bowed diaphysis / diaphyses / long bones - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Elbow dislocation - Frontal sinus agenesis / anomaly - Metacarpal anomalies / Archibald's sign - Osteosclerosis / osteopetrosis / bone condensation - Proximally set thumb - Short hand / brachydactyly - Terminal / third phalangeal bone of fingers hypoplasia - Thumb hypoplasia / aplasia / absence Occasional - Anomalies of spine, vertebrae and pelvis - Carpal bones fusion / synostosis - Tarsal anomaly / fusion / synostosis		Very frequent - Autosomal recessive inheritance - Chromosome breakage - Failure to thrive / difficulties for feeding in infancy / growth delay - Immunodeficiency / increased susceptibility to infections / recurrent infections - Microcephaly Frequent - Acute leukemia - Anomalies of skin, subcutaneous tissue and mucosae - Bone marrow failure / pancytopenia - Brachycephaly / flat occiput - Broad nasal root - Epicanthic folds - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Intellectual deficit / mental / psychomotor retardation / learning disability - Long / large / bulbous nose - Low hair line-front - Lymphoma - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow forehead - Skin photosensitivity - Telecanthus / canthal dystopy - Thin / retracted lips - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Occasional - Anomalies of bones / skeletal anomalies - Clinodactyly of fifth finger - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperleukocytosis / leukocytosis - Hypothyroidy - Insulin-independent / type 2 diabetes - Lymphadenopathy / polyadenopathies - Malabsorption / chronic diarrhea / steatorrhea - Micropenis / small penis / agenesis - Severe combined immune deficiency syndrome / SCID - Telangiectasiae of the skin - Undescended / ectopic testes / cryptorchidia / unfixed testes