Holoprosencephaly deletion 2p
Overview
A very rare syndrome characterized mainly by the failure of the brain to separate into two lobes, facial deformities and various other anomalies.
Symptoms
* Cleft lip * Cleft palate * Wide set eyes * Small head * Mental retardation * Scoliosis * Chronic constipation * Infant death * Single-lobed brain * Single front tooth * Coloboma of iris * Missing eye * Gum cleft * High arched palate * Abnormal external ear structure * Spasticity * Small jaw * Small penis * Small eyes * Small mouth * Excess amniotic fluid * Impaired joint mobility * Stillbirth * Infant death * Premature fusion of skull bones * Undescended testes * Absent nostril * Flattened nose * Increased reflexes * Partial absence of jaw
Diagnosis
signs and symptoms of Holoprosencephaly deletion 2p 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 Holoprosencephaly deletion 2p symptoms.