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Items: 19

1.

Proportionate short stature; mild intellectual disability; dysmorphic facial features; precocious puberty

MedGen UID:
850705
Concept ID:
CN231399
Finding
2.

Leri Weill dyschondrosteosis

The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX), ranges from Leri-Weill dyschondrosteosis (LWD) at the severe end of the spectrum to nonspecific short stature at the mild end of the spectrum. In adults with SHOX deficiency, the proportion of LWD versus short stature without features of LWD is not well defined. In LWD the classic clinical triad is short stature, mesomelia, and Madelung deformity. Mesomelia, in which the middle portion of a limb is shorted in relation to the proximal portion, can be evident first in school-aged children and increases with age in frequency and severity. Madelung deformity (abnormal alignment of the radius, ulna, and carpal bones at the wrist) typically develops in mid-to-late childhood and is more common and severe in females. The phenotype of short stature caused by SHOX deficiency (in the absence of mesomelia and Madelung deformity) is highly variable, even within the same family. [from GeneReviews]

MedGen UID:
75562
Concept ID:
C0265309
Congenital Abnormality
3.

Madelung deformity

MedGen UID:
57537
Concept ID:
C0152441
Congenital Abnormality
4.

Dwarfism

A dwarf is a person of short stature - under 4' 10 as an adult. More than 200 different conditions can cause dwarfism. A single type, called achondroplasia, causes about 70 percent of all dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. It makes your arms and legs short in comparison to your head and trunk. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease. However, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and live as long as other people.  [from MedlinePlus]

MedGen UID:
3931
Concept ID:
C0013336
Congenital Abnormality; Disease or Syndrome
5.

Madelung deformity

An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. [from HPO]

MedGen UID:
505441
Concept ID:
CN002765
Finding
6.

Mesomelic short stature

A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg). [from HPO]

MedGen UID:
501054
Concept ID:
CN007780
Finding
7.

Severe short stature

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. [from HPO]

MedGen UID:
500957
Concept ID:
CN003167
Finding
8.

Growth delay

A deficiency or slowing down of growth pre- and postnatally. [from HPO]

MedGen UID:
500905
Concept ID:
CN001379
Finding
9.

Short stature, idiopathic, X-linked

Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations (SD) of national height standards in the absence of specific causative disorders (Rao et al., 1997). For a discussion of genetic heterogeneity of quantitative trait loci for stature, see STQTL1 (606255). [from OMIM]

MedGen UID:
375584
Concept ID:
C1845118
Congenital Abnormality; Disease or Syndrome
10.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
11.

Short stature, idiopathic, autosomal

MedGen UID:
346958
Concept ID:
C1858656
Disease or Syndrome
12.

Thoracomelic dysplasia

MedGen UID:
336441
Concept ID:
C1848863
Disease or Syndrome
13.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
14.

Langer mesomelic dysplasia syndrome

Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula, and a thickened and curved radius and tibia. These changes can result in displacement deformities of the hands and feet. Hypoplasia of the mandible is also observed (Langer, 1967). See also Leri-Weill dyschondrosteosis (127300), a less severe phenotype that results from heterozygous defect in the SHOX or SHOXY genes. [from OMIM]

MedGen UID:
96585
Concept ID:
C0432230
Congenital Abnormality; Disease or Syndrome
15.

Multiple fibrofolliculomas

The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
16.

Short stature

MedGen UID:
87607
Concept ID:
C0349588
Finding
17.

Triglyceride storage disease with ichthyosis

Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dry, scaly skin (ichthyosis), which is usually present at birth. Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability. The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. [from GHR]

MedGen UID:
82780
Concept ID:
C0268238
Disease or Syndrome
18.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
19.

Osteochondrodysplasia

Abnormal development of cartilage and bone. [from MeSH]

MedGen UID:
10495
Concept ID:
C0029422
Congenital Abnormality
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