Arthrogryposis IUGR thoracic dystrophy
Synonyms
1
Overview
A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities.
Symptoms
- Abnormal rib structure
- Small jaw
- Recessed jaw
- Claw hand
- Camptodactyly of all fingers
- Delayed bone age
- Infant feeding difficulty
- Recurrent infections
- Restricted joint mobility
- Frontal bossing
- Intrauterine growth retardation
- Low-set ears
- Mental retardation
- Small mouth
- Narrow rib cage
- Prematurely aged face
- Short stature
- Triangular face
- Corpus callosum agenesis
- Underdeveloped pellucidum
- Metaphyseal anomaly
- Narrow diaphysis
- Posterior angulation of ears
- Sparse scalp hair
- Absent scalp hair
- Stenosis of aqueduct of sylvius
- Talipes varus
- Talipes valgus
Resources
- NIH