Dubowitz syndrome

Dubowitz syndrome is a very rare genetically determined congenital disorder that had been diagnosed in only 150 to 200 people. It also affects the hormonal system, among others, and therefore has relatively wide‑ranging consequences.

Causes

The exact cause of the syndrome is not known; a mutation in an as‑yet unidentified gene is presumed. 

Symptoms

Affected individuals have low birth weight, microcephaly, and short stature. This is largely due to growth hormone deficiency, which is characteristic of Dubowitz syndrome.

Characteristic changes involve the face, which is triangular, with a small and narrow mandible, a broad nose, and widely spaced eyes. Development of the dentition may be significantly impaired, and orofacial clefts may also be present. Due to abnormalities of the upper airways, a high‑pitched voice is typically present. On the limbs, cutaneous syndactyly (fingers joined by skin folds) may be observed.

In boys with this syndrome, abnormal urethral opening and undescended testes may be present.

The skin typically shows extensive eczema. Intellectual function may be normal, but intellectual disability of varying severity can also occur. Affected individuals often have immune system disorders with reduced levels of antibodies in the blood, leading to frequent infections.

Diagnosis

The diagnosis can be made only on the basis of careful clinical examination. Genetic testing does not confirm the disorder, as the causative gene has not yet been identified.

Treatment

No preventive measures or curative treatment are known. It is necessary to carefully treat recurrent infections. More severe facial deformities (such as clefts) may be treated surgically. If intellectual disability and possible behavioral disorders are present, cooperation with special educators and psychologists is required.

• nedostator rastového hormónu
• trojuholníková tvár s malou a úzkou dolnou čelusťou
• piskľavý hlas
• možné chybné vyústenie močovej trubice u chlapcov a nezostúpené semenníky
• ekzém na koži
• niekedy prítomná mentálna retardácia rôzneho stupňa
• porucha imunity