Microcephalic primordial dwarfism, Montreal type

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Microcephalic primordial dwarfism, Montreal type
Synonyms Montreal type microcephalic primordial dwarfism
Pronounce N/A
Specialty N/A
Symptoms Severe microcephaly, dwarfism, developmental delay
Complications N/A
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks Genetic inheritance
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis Other forms of primordial dwarfism
Prevention N/A
Treatment Supportive care, symptomatic treatment
Medication N/A
Prognosis N/A
Frequency Rare
Deaths N/A


Alternate names

Bird-headed dwarfism with features of premature senility; Premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms

Definition

A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.

NIH genetic and rare disease info

Microcephalic primordial dwarfism, Montreal type is a rare disease.

Rare and genetic diseases

Rare diseases - Microcephalic primordial dwarfism, Montreal type

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Microcephalic primordial dwarfism, Montreal type

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