ODCs

Click node...

1 OMIM reference -
4 associated genes
28 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

1 OMIM reference -
1 associated gene
15 signs/symptoms

Hoyeraal-Hreidarsson syndrome

Retinopathy - anemia- central nervous system anomalies

Citations in the biomedical literature:

Hoyeraal-Hreidarsson syndrome		Retinopathy - anemia- central nervous system anomalies
	Synonym(s): - Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia		Synonym(s): - Revesz-DeBuse syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hematologic disease - Rare immune disease - Rare neurologic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare hematologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C536068		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Anaemia - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intrauterine growth retardation - Microcephaly - Nails anomalies - Purpura / petichiae - Thrombocytopenia / thrombopenia

Hoyeraal-Hreidarsson syndrome		Retinopathy - anemia- central nervous system anomalies
	Very frequent - Autosomal recessive inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism - X-linked recessive inheritance Frequent - Clotting / hemostasis disorders - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Decreased hair pigmentation / hypopigmentation of hair - Diffuse / generalised skin hyperpigmentation / melanoderma - Dilated cerebral ventricles without hydrocephaly - Enanthema / aphtosa / aphta / leukoplakia - Hypertonia / spasticity / rigidity / stiffness - Rippled skin Occasional - Areflexia / hyporeflexia - Ataxia / incoordination / trouble of the equilibrium - Bone marrow failure / pancytopenia - Intracranial / cerebral calcifications - Neoplasms / tumors - White cell disorders		Very frequent - Anomalies of tongue, gingiva and oral mucosa - Fine hair - Platelets shape anomalies - Polynuclear cells / neutrophils anomalies / neutropenia - Prematurity - Retinal detachment - Retinal vascular anomalies / retinal telangiectasia