human-phenotype-ontology
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obophenotype
Redundant umbilical skin
Preferred term label: Redundant umbilical skin
Synonyms
Definition (free text, please give PubMed ID) Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen.
Parent term (use hpo.jax.org/app)
**Diseases characterized by this term ? (e.g. Orphanet or OMIM number)**OMIM: 614557 PMID:24773188 1/1, neonatal Your nano-attribution (ORCID)
I feel that it will be rather hard to be certain or suspicious on fetal scan about redundant umbilical skin. I wonder if 'excessive' umbilical or 'excessively redundant' umbilical skin would be more appropriate. One will need a good sagittal plane of anterior abdominal wall at level of cord insertion. An umbilical hernia can distend the umbilical ring and push it out and may give a false impression of excessive umbilical skin. I presume that this is a diagnosis once umbilical hernia or exomphalos has been excluded.
Diseases characterized by this term: Morquio syndrome- Omim 252300 FKBP14-related Ehlers-Danlos syndrome (EDS)- Omim # 614557 Axenfeld-Rieger syndrome (ARS) - there are 3 omim entries- type 1 #180050; type 2 %601499; type 3 #602482
https://orcid.org/my-orcid?orcid=0000-0001-7600-5359
This feature can also be seen postnatally, see Axenfeld-Rieger syndrome, type 1 (OMIM:180500 ) FIgure 4c https://pubmed.ncbi.nlm.nih.gov/8944018/ (1/1)