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Nathalie syndrome

MedGen UID:
338087
•Concept ID:
C1850626
•
Disease or Syndrome
Synonym: Deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics
SNOMED CT: Deafness with cataract and skeletal anomaly syndrome (716170005); Nathalie syndrome (716170005)
 
Monarch Initiative: MONDO:0009721
OMIM®: 255990
Orphanet: ORPHA2663

Definition

Nathalie syndrome has characteristics of deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother. [from SNOMEDCT_US]

Clinical features

From HPO
Abnormality of the genitourinary system
MedGen UID:
52948
•Concept ID:
C0042063
•
Congenital Abnormality
The presence of any abnormality of the genitourinary system.
See: Feature record | Search on this feature
Abnormal EKG
MedGen UID:
105507
•Concept ID:
C0522055
•
Finding
Abnormal rhythm of the heart.
See: Feature record | Search on this feature
Growth delay
MedGen UID:
99124
•Concept ID:
C0456070
•
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
See: Feature record | Search on this feature
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
Muscular atrophy
MedGen UID:
892680
•Concept ID:
C0541794
•
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
See: Feature record | Search on this feature
Cataract
MedGen UID:
39462
•Concept ID:
C0086543
•
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNathalie syndrome
Follow this link to review classifications for Nathalie syndrome in Orphanet.

Recent clinical studies

Etiology

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.
Nalini A, Pandraud A, Mok K, Houlden H
J Neurol Sci 2013 Nov 15;334(1-2):119-22. Epub 2013 Aug 13 doi: 10.1016/j.jns.2013.08.003. PMID: 24139842Free PMC Article
Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.
de Heer AM, Merchant SN, Kammeraad JA, Cruysberg JR, Huygen PL, Cremers CW
Audiol Neurootol 2012;17(4):219-27. Epub 2012 Apr 5 doi: 10.1159/000336212. PMID: 22487897

Diagnosis

Brown-Vialetto-Van Laere syndrome.
Sathasivam S
Orphanet J Rare Dis 2008 Apr 17;3:9. doi: 10.1186/1750-1172-3-9. PMID: 18416855Free PMC Article

Prognosis

Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.
de Heer AM, Merchant SN, Kammeraad JA, Cruysberg JR, Huygen PL, Cremers CW
Audiol Neurootol 2012;17(4):219-27. Epub 2012 Apr 5 doi: 10.1159/000336212. PMID: 22487897
Brown-Vialetto-Van Laere syndrome.
Sathasivam S
Orphanet J Rare Dis 2008 Apr 17;3:9. doi: 10.1186/1750-1172-3-9. PMID: 18416855Free PMC Article

Supplemental Content

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    Clinical resources

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    • OMIM
      Related records in OMIM
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