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Intestinal dysmotility syndrome(IDMTS)

MedGen UID:
1823992
Concept ID:
C5774219
Disease or Syndrome
Synonym: IDMTS
 
Gene (location): ANO1 (11q13.3)
 
Monarch Initiative: MONDO:0859289
OMIM®: 620045

Definition

Intestinal dysmotility syndrome (IDMTS) is an autosomal recessive disorder characterized by impaired intestinal motility resulting in episodes of diarrhea and distention of intestinal loops. Intestinal and hepatic portal venous gas, similar to findings seen in necrotizing enterocolitis, may be present. Dysmorphic features and developmental delay may also be present (Park et al., 2021). [from OMIM]

Clinical features

From HPO
Pes valgus
MedGen UID:
299028
Concept ID:
C1578482
Anatomical Abnormality
An outward deviation of the foot at the talocalcaneal or subtalar joint.
Weight loss
MedGen UID:
853198
Concept ID:
C1262477
Finding
Reduction of total body weight.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Projectile vomiting
MedGen UID:
67442
Concept ID:
C0221151
Sign or Symptom
Vomiting that ejects the gastric contents with great force.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Decreased intestinal transit time
MedGen UID:
892300
Concept ID:
C3805050
Finding
A reduction in the length of time required for food to pass through the intestines.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Broad philtrum
MedGen UID:
344210
Concept ID:
C1854111
Finding
Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
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.

Professional guidelines

PubMed

Onesimo R, Giorgio V, Viscogliosi G, Sforza E, Kuczynska E, Margiotta G, Iademarco M, Proli F, Rigante D, Zampino G, Leoni C
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):478-493. Epub 2022 Dec 14 doi: 10.1002/ajmg.c.32019. PMID: 36515923
Pironi L, Sasdelli AS
Gastroenterol Clin North Am 2019 Dec;48(4):513-524. Epub 2019 Oct 8 doi: 10.1016/j.gtc.2019.08.005. PMID: 31668180
Rao SSC, Bhagatwala J
Clin Transl Gastroenterol 2019 Oct;10(10):e00078. doi: 10.14309/ctg.0000000000000078. PMID: 31584459Free PMC Article

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