Only males with this X-linked recessive disorder have been described thus far. Recurrent features are:
• Oral anomalies:a high narrow palate, an cleft (opening) of the palate/lip, a nodule on the tongue, or teeth anomalies, such as fusion of the central incisors in the upper jaw
• Facial features:high broad forehead and depressed nasal bridge, and underdeveloped cheekbones
• Digital anomalies: extra fingers on the outer side of the hands, duplication of the big toe, short fingers, curving of the fifth finger, webbing of the toes
• Brain anomalies: anomalies of the pituitary gland, which can be associated with hormonal imbalances, resulting in low blood sugar at birth, delayed puberty or growth delay. Structural anomalies of the pituitary gland can be noticed on a MRI scan. Other structural brain anomalies can be associated.
• Smaller penis and undescended testis.
• Psychomotor development ranges from normal to mildly delayed.
• Seizures.
Not all individuals with a mutation in the ZRSR2 gene have all these features. Boys with OFD type 21 from the same family can have different features.
ZRSR2