Conditions / Syndrome
ulnar-mammary syndrome
info · Syndrome
A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in
A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene.
Signs and symptoms
- Hypoplastic nipples
- Micropenis
- Breast hypoplasia
- Short 5th finger
- Anal stenosis
- Short 5th toe
- Anal atresia
- Anterior pituitary hypoplasia
- Hypoplastic scapulae
- Inguinal hernia
Also known as: Pallister ulnar-mammary syndrome; Schinzel syndrome