Nanocephalic dwarfism or Seckel syndrome is a rare inherited disorder characterised mainly by retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism and various other skeletal, cutaneous, and genital defects.

Symptoms

• Low birth weight and Failure to grow

•  Mental retardation and Dwarfism

• Small head, Prominent nose, Beaked nose

•  Crossed eyes, Sparse hair

•  Hip dislocation, Clubfoot, Absent thumb

•  Cloaca-like malformation of genitourinary tract and rectum

 

Prognosis

The prognosis of Seckel syndrome depends on the duration, chances of complications, probable outcomes, prospects for recovery, recovery period, survival rates, death rates, and other outcome possibilities in the overall prognosis of Seckel syndrome.

Diagnosis

Routine studies

•  CBC, sedimentation rate, urinalysis, chemistry panel, thyroid profile, VDRL test, quantitative stool fat, a sweat test, and x-rays of the skull and long bones.

• If Turner's syndrome is suspected, a buccal smear for sex chromogen may be done.

•  If pituitary dwarfism is suspected, a CT scan of the skull may be helpful.

• Additional endocrine tests include a serum growth hormone level before and after exercise, a resting somatomedin-C level, and an overnight dexamethasone suppression test.

• In patients suspected of having rickets and hypoparathyroidism, 24-hr urine calciums may be done.

 

Treatment

• Symptomatic measures

• Supportive care

• Genetic counseling