Acrofacial dysostosis Rodriguez type
Synonyms
1
Overview
One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
Symptoms
- Missing ears
- Small ears
- Abnormal brain (corpus callosum) development
- Abnormal brain (pellucidum) development
- Cyanotic heart disease
- Abnormality of the outer ear
- Hypoplasia of the zygomatic bone
- Prominent nasal bridge
- Split hand
- Absent thigh bone
- Abnormal thigh bone
- Absent calf bone
- Abnormal calf bone
- Prominent forehead
- Retarded fetal growth
- Short leg bones
- Small jaw
- Recessed jaw
- Small mouth
- Missing fingers
- Abnormal shoulder blade structure
- Short limbs
- Short stature
- Stillbirth
- Infant death
- Absent shin bone
- Abnormal shin bone
- Absent ulnar
- Ulnar abnormalities
- Abnormal vertebral size
- Abnormal vertebral shape
- Abnormal kidney development
- Cleft hard palate
- Coarse face
- Dilated brain ventricles
- Wide-set eyes
- Absent kneecap
- Abnormal kneecap
- Extra big toe
- Bulging eyes
- Short midface
- Short neck
- Narrowed aqueduct of sylvius
- Cone-shaped skull
- Upslanted fissures
- Abnormal rib number
- Absent lung lobe
- Uterine abnormalities
- Vaginal abnormalities
Diagnosis
Severe micrognathia and the typical micromesomelia with the abnormal hand mainly suggest the diagnosis. Accessory anomalies have frequently been reported.
Prognosis
Lethal from lung hypoplasia due to severe mandibular hypoplasia
Resources
- NIH