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Ameloonychohypohidrotic syndrome

MedGen UID:
400184
•Concept ID:
C1863006
•
Disease or Syndrome
Synonym: Hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis
SNOMED CT: Ameloonychohypohidrotic syndrome (715404000); Amelo-onycho-hypohidrotic syndrome (715404000)
 
Monarch Initiative: MONDO:0007095
OMIM®: 104570
Orphanet: ORPHA1028

Definition

A rare syndrome comprising hypocalcified-hypoplastic tooth enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis. [from SNOMEDCT_US]

Clinical features

From HPO
Hypocalcification of dental enamel
MedGen UID:
869123
•Concept ID:
C4023541
•
Disease or Syndrome
A form of hypomineralization of enamel characterized by reduced calcification.
See: Feature record | Search on this feature
Seborrheic dermatitis
MedGen UID:
19912
•Concept ID:
C0036508
•
Disease or Syndrome
Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.
See: Feature record | Search on this feature
Yellow-brown discoloration of the teeth
MedGen UID:
350813
•Concept ID:
C1863008
•
Finding
See: Feature record | Search on this feature
Marked delay in eruption of permanent teeth
MedGen UID:
400185
•Concept ID:
C1863009
•
Finding
See: Feature record | Search on this feature
Hypohidrosis
MedGen UID:
43796
•Concept ID:
C0020620
•
Disease or Syndrome
Abnormally diminished capacity to sweat.
See: Feature record | Search on this feature
Onycholysis
MedGen UID:
39324
•Concept ID:
C0085661
•
Disease or Syndrome
Detachment of the nail from the nail bed.
See: Feature record | Search on this feature
Dry skin
MedGen UID:
56250
•Concept ID:
C0151908
•
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
See: Feature record | Search on this feature
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Term Hierarchy

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed (OMIM)
      Related literature resources in PubMed

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