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Familial intestinal malrotation - facial anomalies

General Information (adopted from Orphanet):

Synonyms, Signs:	INTESTINAL MALROTATION, FAMILIAL Stalker-Chitayat syndrome
Number of Symptoms	21
OrphanetNr:	2454
OMIM Id:	193250
ICD-10:	Q43.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal recessive inheritance Autosomal dominant inheritance [Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases:

Syndromic intestinal malformation
-Rare abdominal surgical disease
-Rare developmental defect during embryogenesis
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000119)	Abnormality of the genitourinary system		34 / 7739
2	(HPO:0005280)	Depressed nasal bridge	Very frequent [Orphanet]	381 / 7739
3	(HPO:0000506)	Telecanthus		156 / 7739
4	(HPO:0002007)	Frontal bossing	Very frequent [Orphanet]	366 / 7739
5	(HPO:0000463)	Anteverted nares	Very frequent [Orphanet]	305 / 7739
6	(HPO:0000316)	Hypertelorism	Very frequent [Orphanet]	644 / 7739
7	(HPO:0000348)	High forehead	Very frequent [Orphanet]	157 / 7739
8	(HPO:0000637)	Long palpebral fissure		21 / 7739
9	(HPO:0002019)	Constipation		194 / 7739
10	(HPO:0002566)	Intestinal malrotation	Very frequent [Orphanet]	89 / 7739
11	(HPO:0002580)	Volvulus		10 / 7739
12	(HPO:0005234)	Neonatal intestinal obstruction		1 / 7739
13	(HPO:0003270)	Abdominal distention		46 / 7739
14	(HPO:0012905)	Euryblepharon	Very frequent [Orphanet]	12 / 7739
15	(OMIM)	Midgut volvulus		1 / 7739
16	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
17	(OMIM)	Boxy head		1 / 7739
18	(OMIM)	Major obstetrical abnormalities		1 / 7739
19	(OMIM)	Atresia of ascending colon		1 / 7739
20	(OMIM)	Thick fibromuscular disc on stomach antrum		1 / 7739
21	(OMIM)	Abdominal distention and pain		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Smith (1972) documented 8 cases of midgut volvulus in 1 kindred. The propositus, his 2 sons and 3 daughters, and his 2 grandchildren demonstrated this midgut malrotation syndrome. The midgut volvulus caused great discomfort. Six of the affected ... Smith (1972) documented 8 cases of midgut volvulus in 1 kindred. The propositus, his 2 sons and 3 daughters, and his 2 grandchildren demonstrated this midgut malrotation syndrome. The midgut volvulus caused great discomfort. Six of the affected had undergone a total of 24 operative procedures to alleviate problems caused by the malrotation of the midgut. The clinical course of the 5 sibs showed normal growth and development followed by the appearance of abdominal distention, pain, and constipation by the age of 6 years. The 2 affected grandchildren died at the age of 4 weeks, one of postoperative complications to repair the volvulus and the other from multiple congenital defects. This kindred also demonstrated a thick disc of fibromuscular tissue on the antrum of the stomach in 3 of the patients and major obstetrical abnormalities in 10 of 19 pregnancies produced by the 5 affected sibs. Carmi et al. (1981) reported father and daughter with congenital midgut volvulus and consequent intestinal obstruction, discovered soon after birth. The father's younger sister developed intestinal obstruction 2 days after birth and was found to have atresia of the ascending colon. The parents of these 2 sibs and a later-born son of the 'father' were normal by roentgenographic survey of the gastrointestinal tract. Budd and Powley (1988) reported the cases of 2 sibs with small bowel volvulus and malrotation. Stalker and Chitayat (1992) described 2 sisters with congenital midgut volvulus. Both had small intestinal malrotation. One had gangrene of the entire small intestine, suggesting that the intestinal volvulus was late in onset. In the second sister, the volvulus probably occurred at an earlier gestational age, causing intestinal atresia. Both sibs had an unusual facial appearance: a 'boxy' head, high forehead, frontal bossing, telecanthus, and long palpebral fissures. Both parents had normal barium meal roentgenograms, and they and 2 unaffected sibs had a different facial appearance.

Symptoms & Signs

	Field	Query
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