Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Orpha code: 300284OMIM code: 612394

Definition

Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.

Disease data
Classification

Disease

Synonyms
Bone fragility-contractures-arterial rupture-deafness syndrome
Choroba tkanki łącznej z powodu niedoboru LH3
Zespół kruchość kości-przykurcze-pęknięcie tętnicy-głuchota
Bone fragility-contractures-arterial rupture-hearing loss syndrome
Connective tissue disorder due to LH3 deficiency
ORPHA code
300284
OMIM code
612394
ICD10 code
M35.8
ICD11 code
-

No additional description.

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