Thus far, only males with this X-linked recessive disorder have been described. Heterozygous females are asymptomatic.
• oral anomalies: high narrow palate or cleft palate/lip, accessory oral frenulae, a lobulated tongue, a tongue nodule, or teeth anomalies, such as fusion of the central maxillary incisors
• facial features: high broad forehead and depressed nasal bridge, flat facial profile and malar hypoplasia
• digital anomalies: bilateral postaxial polydactyly of the hands, hallux duplication, brachydactyly, 5th digit clinodactyly of the hands, cutaneous syndactyly of the toes
• brain anomalies, ranging from pituitary anomalies to alobar holoprosencephaly. Pituitary anomalies can be associated with prolonged neonatal hypoglycemia, GH, adrenocorticotropic hormone, thyroid stimulating hormone, or luteinizing hormone-releasing hormone insufficiency. Absence/hypoplasia of the adenohypophysis and absence of the pituitary stalk with an ectopic neurohypophysis are recurrent features on brain MRI. Associated brain anomalies include polymicrogyria or corpus callosum hypoplasia.
• Micropenis and cryptorchidism.
• Psychomotor developmentranges from normal to mildly delayed.
• Seizures.
ZRSR2