Wiedemann-Rautenstrauch syndrome

Also known as: Neonatal progeroid syndrome

Definition

Orphanet

Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Macrocephaly Big skull, Increased size of head, Large head, Increased size of skull, Large head circumference, Big head, Large calvaria, Increased size of cranium, Large skull, Big cranium, Large cranium, Big calvaria, Macrocrania, Megacephaly [more] Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Reduced subcutaneous adipose tissue Decreased subcutaneous fat, Scanty adipose tissue, Reduced fat tissue below the skin, Decreased subcutaneous adipose tissue, Reduced subcutaneous fat [more] A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.
Hypotrichosis Marked hypotrichosis, Hypotrichosis, infantile, Congenital hypotrichosis [more] Congenital lack of hair growth.
Relative macrocephaly Disproportionately large head, Relatively large head A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.

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