Brachytelephalangy characteristic facies Kallmann

Overview

Brachytelephalangy, characteristic facies, Kallmann: A very rare syndrome characterized primarily by very short end bones of fingers and facial anomalies.

Symptoms

1. 1q terminal deletion A rare chromosomal disorder where the terminal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities....more » 2. AIDS dysmorphic syndrome A rare syndrome involving craniofacial anomalies and developmental delay that occurs in infants infected with AIDS during the fetal stage....more » 3. Acrocephalopolydactyly II A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation....more » 4. Acromegaly A hormonal disorder involving excess growth hormone production by the pituitary gland....more »

Causes

A congenital deficiency in gonadotropin secretion, caused by reduced production of hypothalamic GnRH, is responsible for hypogonadism in Kallmann syndrome. This deficiency ranges from partial to severe. In partial forms, a degree of sexual development occurs, resulting in patients known as “fertile eunuchs.” In more severe forms, levels of luteinizing and follicle-stimulating hormones are low; sexual maturation is absent.