Malformation syndromes associated with disorders of sex development.

[alpha-thalassemia]

When embryological development of the internal and /or external genitalia is disrupted , the patient presents with a disorder of sex development (DSD ) in the neonatal period or sometime later in life . Some of these patients have other , nongenital malformations , which makes their overall management more complex than if they just had a DSD . This Review summarises these malformation syndromes and discusses the recent research into their aetiology . The genetic causes of these malformation syndromes , when they are known , will also be described . Many specific genetic mutations are now known in malformation syndromes with a defect in hormonal function . By contrast , the genetic causes remain unknown in many nonhormonal morphological anomalies that affect the genitalia .

Diseases
Validation

Diseases presenting "neonatal period" symptom

alexander disease

alpha-thalassemia

benign recurrent intrahepatic cholestasis

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cutaneous mastocytosis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

harlequin ichthyosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

neuralgic amyotrophy

pyruvate dehydrogenase deficiency

zellweger syndrome

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