Craniosynostosis radial aplasia syndrome
Overview
Craniosynostosis radial aplasia syndrome: A rare genetic disorder characterized by premature closing of skull bones, growth deficiency and anal, limb and urogenital craniofacial abnormalities.
Symptoms
The list of signs and symptoms mentioned in various sources for Craniosynostosis radial aplasia syndrome includes the 31 symptoms listed below: * Mentally deficiency * Growth deficiency * Premature closing of skull bones * Low-set ears * Posteriorly rotated ears * Small lower jaw * Prominent nasal bridge * Down-slanting space between eyelids * Small mouth * Epicanthal folds * Flattened forehead * Radial aplasia * Radial hypoplasia * Short ulna * Curved ulna * Missing carpals * Missing metacarpals * Missing phalanges * Fused carpals * Absent thumbs * Hypoplastic thumbs * Anal anomalies * Imperforate anus * Anteriorly placed anus * Ectopic kidney * Hypoplastic kidney * Dysplastic kidney * Absent kidney * Persistence of the cloaca * Early death usually during first year * Mental retardation
Causes
* Anal anomalies * Down-slanting space between eyelids * Epicanthal folds * Growth deficiency * Low-set ears * Mental retardation * Posteriorly rotated ears * Prominent nasal bridge * Small lower jaw * Small mouth
Diagnosis
The phrase "signs of Craniosynostosis radial aplasia syndrome" should, strictly speaking, refer only to those signs and symptoms of Craniosynostosis radial aplasia syndrome that are not readily apparent to the patient. The word "symptoms of Craniosynostosis radial aplasia syndrome" is the more general meaning; see symptoms of Craniosynostosis radial aplasia syndrome. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Craniosynostosis radial aplasia syndrome. This medical information about signs and symptoms for Craniosynostosis radial aplasia syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Craniosynostosis radial aplasia syndrome signs or Craniosynostosis radial aplasia syndrome symptoms. Furthermore, signs and symptoms of Craniosynostosis radial aplasia syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Craniosynostosis radial aplasia syndrome symptoms.