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Aplasia cutis congenita-intestinal lymphangiectasia syndrome

MedGen UID:
349241
•Concept ID:
C1859753
•
Disease or Syndrome
Synonyms: ACC with intestinal lymphangiectasia; Aplasia cutis congenita intestinal lymphangiectasia; APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008808
OMIM®: 207731
Orphanet: ORPHA1116

Definition

An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. [from ORDO]

Clinical features

From HPO
Abnormal bleeding
MedGen UID:
264316
•Concept ID:
C1458140
•
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
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Abnormal paranasal sinus morphology
MedGen UID:
871377
•Concept ID:
C4025873
•
Anatomical Abnormality
Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.
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Intestinal lymphangiectasia
MedGen UID:
9828
•Concept ID:
C0024215
•
Disease or Syndrome
Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.
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Lymphopenia
MedGen UID:
7418
•Concept ID:
C0024312
•
Disease or Syndrome
A reduced number of lymphocytes in the blood.
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Hypoproteinemia
MedGen UID:
581229
•Concept ID:
C0392692
•
Finding
A decreased concentration of protein in the blood.
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Generalized edema
MedGen UID:
376817
•Concept ID:
C1850534
•
Pathologic Function
Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
See: Feature record | Search on this feature
Aplasia cutis congenita over the scalp vertex
MedGen UID:
370826
•Concept ID:
C1970112
•
Congenital Abnormality
A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia cutis congenita-intestinal lymphangiectasia syndrome
Follow this link to review classifications for Aplasia cutis congenita-intestinal lymphangiectasia syndrome in Orphanet.

Recent clinical studies

Diagnosis

The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.
Joyce S, Gordon K, Brice G, Ostergaard P, Nagaraja R, Short J, Moore S, Mortimer P, Mansour S
Eur J Hum Genet 2016 May;24(5):690-6. Epub 2015 Aug 5 doi: 10.1038/ejhg.2015.175. PMID: 26242988Free PMC Article

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