Hemihypertrophy

General Information (adopted from Orphanet):

Synonyms, Signs: HEMIHYPERTROPHY, ISOLATED HEMI-3 SYNDROME, INCLUDED
HEMIHYPERPLASIA
HHP
IH
Isolated hemihyperplasia
Hemi 3 syndrome
Hemicorporal hypertrophy
Number of Symptoms 31
OrphanetNr: 2128
OMIM Id: 235000
ICD-10: Q87.3
UMLs:
MeSH:
MedDRA: 10019463
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Macroglossia
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
Overgrowth syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
2
(HPO:0002667) Nephroblastoma Occasional [Orphanet] 30 / 7739
3
(HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
4
(HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
5
(HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
6
(HPO:0007021) Pain insensitivity Occasional [Orphanet] 35 / 7739
7
(HPO:0001256) Intellectual disability, mild 20 % [HPO:skoehler] 141 / 7739
8
(HPO:0001315) Reduced tendon reflexes Occasional [Orphanet] 160 / 7739
9
(HPO:0001528) Hemihypertrophy 13 / 7739
10
(HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
11
(HPO:0002475) Myelomeningocele Occasional [Orphanet] 29 / 7739
12
(HPO:0001555) Asymmetry of the thorax Very frequent [Orphanet] 15 / 7739
13
(HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
14
(HPO:0100555) Asymmetric growth Very frequent [Orphanet] 25 / 7739
15
(HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
16
(HPO:0002898) Embryonal neoplasm 6 / 7739
17
(HPO:0003712) Skeletal muscle hypertrophy 42 / 7739
18
(OMIM) Increased risk for embryonal tumors 1 / 7739
19
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
20
(HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
21
(HPO:0003829) Incomplete penetrance 85 / 7739
22
(OMIM) Hemihyperplasia of limbs 1 / 7739
23
(OMIM) Asymmetry of the chest 1 / 7739
24
(OMIM) Mental retardation, mild to moderate 33 / 7739
25
(OMIM) Hemihyperplasia of feet 1 / 7739
26
(OMIM) Increased risk for Wilms tumor 1 / 7739
27
(OMIM) Displaced nipples due to chest asymmetry 1 / 7739
28
(OMIM) Increased risk of Wilms tumor 2 / 7739
29
(OMIM) Muscle hypertrophy in affected area 1 / 7739
30
(OMIM) Hemihyperplasia of hands 1 / 7739
31
(OMIM) Asymmetric growth involving 1 or more body parts, isolated 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Isolated hemihyperplasia is an abnormality of cell proliferation leading to asymmetric overgrowth of one or more regions of the body. The term 'hemihyperplasia' has replaced the term 'hemihypertrophy' to describe accurately the increase in cell number found in ...
Clinical Description OMIM There are several early reports of familial hemihypertrophy (Reed, 1925; Scott, 1935; Arnold, 1936; Rudolph and Norvold, 1944; Morris and MacGillivray, 1955). However, some of these patients had additional findings, suggesting that not all of the families had ...
Molecular genetics OMIM West et al. (2003) described a pair of female monozygotic twins discordant for isolated hemihypertrophy, and showed mosaic paternal uniparental disomy for 11p15 in the affected twin. They proposed that isolated hemihypertrophy is, in fact, part of the ...