Microcephalic primordial dwarfism, Dauber type

Orpha code: 319675OMIM code: 614851

Definition

Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Disease data
Classification

Malformation syndrome

ORPHA code
319675
OMIM code
614851
ICD10 code
Q87.1
ICD11 code
-

No additional description.

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