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Items: 16

1.

Weill-Marchesani syndrome 1

Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone. [from GeneReviews]

MedGen UID:
1637058
Concept ID:
C4552002
Disease or Syndrome
2.

Weill-Marchesani syndrome 2, dominant

Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone. [from GeneReviews]

MedGen UID:
358388
Concept ID:
C1869115
Disease or Syndrome
3.

Metaphyseal chondrodysplasia, Schmid type

Schmid metaphyseal chondrodysplasia (SMCD) is characterized by progressive short stature that develops by age two years. The clinical and radiographic features are usually not present at birth, but manifest in early childhood with short limbs, genu varum, and waddling gait. Facial features and head size are normal. Radiographs show metaphyseal irregularities of the long bones (e.g., splaying, flaring, cupping); shortening of the tubular bones; widened growth plates; coxa vara; and anterior cupping, sclerosis, and splaying of the ribs. Mild hand involvement often includes shortening of the tubular bones and metaphyseal cupping of the metacarpals and proximal phalanges. Platyspondyly and vertebral end-plate irregularities are less common. Hand and vertebral involvement can resolve with age. Early motor milestones may be delayed due to orthopedic complications. Intelligence is normal. Joint pain in the knees and hips is common and may limit physical activity. Adult height is typically more than 3.5 SD below the mean, although a wide spectrum that overlaps normal height has been reported. There are no extraskeletal manifestations. [from GeneReviews]

MedGen UID:
78550
Concept ID:
C0265289
Disease or Syndrome
4.

Seckel syndrome 1

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel Syndrome Other forms of Seckel syndrome include SCKL2 (606744), caused by mutation in the RBBP8 gene (604124) on chromosome 18q11; SCKL4 (613676), caused by mutation in the CENPJ gene (609279) on chromosome 13q12; SCKL5 (613823), caused by mutation in the CEP152 gene (613529) on chromosome 15q21; SCKL6 (614728), caused by mutation in the CEP63 gene (614724) on chromosome 3q22; SCKL7 (614851), caused by mutation in the NIN gene (608684) on chromosome 14q22; SCKL8 (615807), caused by mutation in the DNA2 gene (601810) on chromosome 10q21; SCKL9 (616777), caused by mutation in the TRAIP gene (605958) on chromosome 3p21; SCKL10 (617253), caused by mutation in the NSMCE2 gene (617246) on chromosome 8q24; and SCKL11 (620767), caused by mutation in the CEP295 gene (617728) on chromosome 11q21. The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see History section. [from OMIM]

MedGen UID:
1637056
Concept ID:
C4551474
Disease or Syndrome
5.

Autosomal recessive Kenny-Caffey syndrome

A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia. [from ORDO]

MedGen UID:
340923
Concept ID:
C1855648
Disease or Syndrome
6.

Hallermann-Streiff syndrome

Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in a minority of cases (Gorlin et al., 1990). [from OMIM]

MedGen UID:
5414
Concept ID:
C0018522
Disease or Syndrome
7.

Chromosome 14q11-q22 deletion syndrome

14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. [from ORDO]

MedGen UID:
462057
Concept ID:
C3150707
Disease or Syndrome
8.

Short stature with nonspecific skeletal abnormalities

MedGen UID:
906874
Concept ID:
C4225399
Disease or Syndrome
9.

Spondyloepiphyseal dysplasia, Kimberley type

Disease with characteristics of short stature and premature degenerative arthropathy. It has been described in one multigenerational South African family of English white descent. The main clinical features may include proportionate short stature (less than fifth percentile for age), stocky habitus and early-onset progressive osteoarthropathy of the weight-bearing joints. Radiographic features are flattened vertebral bodies with sclerosis and prominent endplate irregularity and flattened femoral epiphyses. Caused by mutation in the aggrecan gene (AGC1, locus 15q26.1) and transmitted as an autosomal dominant trait. [from SNOMEDCT_US]

MedGen UID:
330777
Concept ID:
C1842149
Congenital Abnormality
10.

Odontochondrodysplasia 2 with hearing loss and diabetes

Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability (Cauwels et al., 2005; Lekszas et al., 2020). For a discussion of genetic heterogeneity of ODCD, see ODCD1 (184260). [from OMIM]

MedGen UID:
1782909
Concept ID:
C5543275
Disease or Syndrome
11.

CHROMOSOME 1qter DELETION SYNDROME

MedGen UID:
382926
Concept ID:
C2676727
Disease or Syndrome
12.

Transketolase deficiency

A rare disorder of pentose phosphate metabolism with characteristics of developmental delay and intellectual disability, delayed or absent speech, short stature and congenital heart defects (such as ventricular septal defect, atrial septal defect and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behaviour, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment and variable facial dysmorphism among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate). [from SNOMEDCT_US]

MedGen UID:
1814561
Concept ID:
C5700245
Disease or Syndrome
13.

Autosomal recessive faciodigitogenital syndrome

A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. It has been observed in 16 subjects from five distantly related sibships of a large Kuwaiti Bedouin tribe. The affected patients had no intellectual deficit. Transmitted as an autosomal recessive trait. [from SNOMEDCT_US]

MedGen UID:
341637
Concept ID:
C1856871
Disease or Syndrome
14.

Hatipoglu immunodeficiency syndrome

Hatipoglu immunodeficiency syndrome (HATIS) is an autosomal recessive immunologic disorder characterized by childhood onset of failure to thrive, skin manifestations, pancytopenia, and susceptibility to recurrent infections (Harapas et al., 2022). [from OMIM]

MedGen UID:
1841075
Concept ID:
C5830439
Disease or Syndrome
15.

Short stature and Facioauriculothoracic malformations

MedGen UID:
351216
Concept ID:
C1864791
Disease or Syndrome
16.

Proportionate short stature

A kind of short stature in which different regions of the body are shortened to a comparable extent. [from HPO]

MedGen UID:
163901
Concept ID:
C0878660
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