Nathalie Syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Nathalie syndrome or Nathalie's disease is an extremely rare genetic disease with early childhood deafness , cataracts , muscle atrophy and changes in the ECG .

The name refers to the name of the first person affected.

distribution

So far only one family has been described; inheritance is autosomal - recessive .

root cause

The etiology is unknown.

Clinical manifestations

Clinical criteria are:

• Early childhood deafness
• Bilateral cataract
• Muscular atrophy, presumably spinal
• EKG changes
• Skeletal abnormalities such as osteochondrosis
• Growth retardation
• Underdeveloped secondary sexual characteristics

Differential diagnosis

The following are to be distinguished:

• Fazio-Londe Syndrome
• Amyotrophic Lateral Sclerosis
• Brown-Vialetto-van-Laere syndrome
• Joubert syndrome
• Motor Neuron Disease Madras (MMND)

literature

• CW Cremers, BG Ter Haar, TJ Van Rens: The Nathalie syndrome. A new hereditary syndrome. In: Clinical genetics. Vol. 8, No. 5, November 1975, ISSN  0009-9163 , pp. 330-340, PMID 1204231 .

Web links

• Nathalie Syndrome.  In: Online Mendelian Inheritance in Man . (English)

Individual evidence

1. ↑ ^{a b} G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger (eds.): The clinical syndromes. Syndromes, sequences and symptom complexes. 7th edition. Urban & Schwarzenberg, 1990, ISBN 3-541-01727-9 , p. 521.
2. ↑ Nathalie's Syndrome. In: Orphanet (Rare Disease Database).

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !