Sakati syndrome

Synonyms

Sakati-Nyhan syndrome
Acrocephalopolysyndactyly type 3
ACPS with leg hypoplasia
ACPS 3

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