Acrofacial dysostosis Catania form
Synonyms
3
Overview
One of a group of disorders characterized by defective limb and facial development and the Catania form is very rare.
Symptoms
- Abnormal dental position
- Short digits (Finger or Toe)
- Delayed bone age
- Downslanted fissures
- Flat cheek bones
- Abnormality of the palate (Narrow palate, highly arched palate)
- Abnormality of the philtrum
- Brachydactyly syndrome
- Cognitive impairment
- Finger syndactyly
- High forehead
- Hypoplasia of the zygomatic bone
- Short and Small nose
- Short palm
- Short stature
- Irregular finger shape
- Long upper lip groove
- Low set ears
- Mental retardation
- Small head
- Small jaw
- Recessed jaw
- Flat upper lip groove
- Dwarfism
- Simian crease
- Small hand
- Spina bifida occulta
- Wooly hair
- Frizzy hair
- Infant feeding problems
- Underdeveloped thumb
- Abnormally located urethral opening
- Epispadias
- Retarded fetal growth
- Thin eyebrows
- Low frontal hair line
- Preauricular pits
- Undescended testes
- Ectopic testes
- Anodontia
- Oliogodontia
- Curved fifth finger
- Coarse hair
- Thick hair
- Inguinal hernia
- Premature birth
- Webbed neck
- Facial cleft
Diagnosis
Mandibulofacial dysostosis, Treacher-Collins syndrome. Nager syndrome can be differentiated from Miller syndrome since it is pre and not post axial.
Resources
- NIH