Sakati syndrome
Synonyms
4
Overview
A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
Symptoms
- Premature fusion of skull bones
- Cone-shaped skull
- Brachydactyly
- Polydactyly of toes
- Bowed femurs
- Underdeveloped tibias
- Posterior displacement of fibula on femora
- Congenital heart disease
- Inguinal hernia
- Patches of alopecia
- Cutaneous atrophy of scalp
- Breathing difficulty
- Frequent respiratory infections
- Cyanosis
- Slow development
- Walking difficulty
- Increased intracranial pressure
- Osteoporosis
- Syndactyly of toes
- Underdeveloped ears
- Undescended testes
- Small penis
- Congenital heart disease
- Abnormal cortical bone morphology
- Abnormality of the metaphyses
- Hernia of the abdominal wall
- Hyperextensible skin
- Joint hypermobility
- Macrotia
- Recurrent fractures
- Reduced bone mineral density
- Short stature
- Synophrys
Resources
- NIH