Short Stature Onychodysplasia

Important
It is feasible that the primary title of the record Coffin Siris Syndrome is not the name you expected. Please check the basic synonyms listing to discover the alternative name(s) as well as condition class(s) covered by this record.

Basic synonyms

• Dwarfism-Onychodysplasia
• Fifth Number Syndrome
• Mental Retardation with Hypoplastic Fifth Finger nails as well as Nails
• Brief Stature-Onychodysplasia

Condition Subdivisions

• None

General Discussion
Coffin-Siris syndrome is a rare congenital disease that could appear at birth (hereditary). The problem may be identified by feeding troubles as well as frequent breathing infections during infancy, lessened muscle tissue tone (hypotonia), uncommon looseness (laxity) of the joints, postponed bone age, as well as dementia. On top of that, impacted infants as well as kids generally have brief 5th fingers (“pinkies”) as well as toes with underdeveloped (hypoplastic) or absent nails; rest malformations of the fingers and toes; and also particular problems of the head and also face (craniofacial) location, causing a coarse face appearance. Craniofacial malformations could include an uncommonly little head (microcephaly); a wide nose with a low nasal bridge; a large mouth with thick, prominent lips; thick eyebrows and eyelashes (hypertrichosis); as well as sparse scalp hair.

The underlying source of Coffin-Siris disorder is unidentified. In most cases, the disorder is thought to arise from new genetic modifications (anomalies) that show up to occur arbitrarily for unidentified reasons (sporadically). Domestic cases have likewise been reported that recommend autosomal dominant or autosomal recessive inheritance.