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Items: 1 to 20 of 68

1.

Hypochondroplasia

Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Radiologic features include shortening of long bones with mild metaphyseal flare; narrowing of the inferior lumbar interpedicular distances; short, broad femoral neck; and squared, shortened ilia. The skeletal features are very similar to those seen in achondroplasia but tend to be milder. Medical complications common to achondroplasia (e.g., spinal stenosis, tibial bowing, obstructive apnea) occur less frequently in hypochondroplasia but intellectual disability and epilepsy may be more prevalent. Children usually present as toddlers or school-age children with decreased growth velocity leading to short stature and limb disproportion. Other features also become more prominent over time. [from GTR]

MedGen UID:
98376
Concept ID:
C0410529
Congenital Abnormality
2.

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

MedGen UID:
850705
Concept ID:
CN231399
Finding
3.

Hyperlordosis

Abnormally increased curvature of the lumbar portion of the spinal column. [from NCI]

MedGen UID:
9805
Concept ID:
C0024003
Disease or Syndrome; Finding; Finding
4.

Achondroplasia

Achondroplasia is the most common process resulting in disproportionate small stature. Affected individuals have short arms and legs, a large head, and characteristic facial features with frontal bossing and midface retrusion (formerly known as midface hypoplasia). In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. [from GTR]

MedGen UID:
1289
Concept ID:
C0001080
Congenital Abnormality
5.

Usually

A response indicating that something happens or happened most of the time. [from NCI]

MedGen UID:
854883
Concept ID:
C3888388
Finding
6.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
7.

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues. [from HPO]

MedGen UID:
505316
Concept ID:
CN002411
Finding
8.

Height / growth measure

The height of a person while standing. [from NCI]

MedGen UID:
452503
Concept ID:
C0424639
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 GTR]

MedGen UID:
375584
Concept ID:
C1845118
Congenital Abnormality
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.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
334384
Concept ID:
C1843367
Finding
13.

Mild

Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
268697
Concept ID:
C1513302
Finding
14.

Lumbar hyperlordosis

An abnormal accentuation of the inward curvature of the spine in the lumbar region. [from HPO]

MedGen UID:
263149
Concept ID:
C1184923
Anatomical Abnormality; Finding
15.

Autosomal dominant inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [from HPO]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
16.

short extremities

Absence (due to failure to form) or underdevelopment of the extremities. [from HPO]

MedGen UID:
116086
Concept ID:
C0239399
Finding
17.

Short arm

MedGen UID:
98429
Concept ID:
C0426857
Finding
18.

Short lower limbs

Shortening of the legs related to developmental hypoplasia of the bones of the leg. [from HPO]

MedGen UID:
98100
Concept ID:
C0426901
Finding
19.

Skeletal dysplasia

MedGen UID:
98053
Concept ID:
C0410528
Congenital Abnormality
20.

Ataxic cerebral palsy

Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development (Hughes and Newton, 1992). It is a common disorder of childhood, with an incidence of 1 in 250 to 1,000 births (Pharoah et al., 1987; Bundey and Alam, 1993). Ataxic cerebral palsy accounts for 5 to 10% of all forms of CP, and approximately 50% of ataxic CP is thought to be inherited as an autosomal recessive trait (McHale et al., 2000). Also see spastic cerebral palsy (603513). [from GTR]

MedGen UID:
95998
Concept ID:
C0394005
Disease or Syndrome
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