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1.

SHORT syndrome

SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. It is now recognized that the features most consistently observed in SHORT syndrome are mild intrauterine growth restriction (IUGR); mild short stature; partial lipodystrophy (evident at birth in the face, and later in the chest and upper extremities, often sparing the buttocks and legs); and a characteristic facial gestalt. Other frequent features include: Axenfeld-Rieger anomaly or related ocular anterior chamber dysgenesis; delayed dentition and a variety of dental abnormalities; insulin resistance (typically in mid-childhood to adolescence) and/or diabetes mellitus in early adulthood; and sensorineural hearing loss. To date the diagnosis has been molecularly confirmed in individuals from 16 families; thus, the current understanding of the phenotypic spectrum and natural history are likely to evolve over time. [from GTR]

MedGen UID:
164212
Concept ID:
C0878684
Disease or Syndrome
2.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
4.

Anterior segment dysgenesis 7

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012). Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007). [from GTR]

MedGen UID:
344000
Concept ID:
C1853235
Disease or Syndrome
5.

Frameshift Mutation

A mutation occurring within the protein-coding region of a gene which results in a shift in the reading frame of the encoded protein. Frameshift mutations often result in the premature truncation of a gene product. [from NCI]

MedGen UID:
86908
Concept ID:
C0079380
Cell or Molecular Dysfunction
6.

Postaxial polydactyly type A1

Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial Polydactyly Other forms of postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21; PAPA3 (607324) on chromosome 19p13; PAPA4 (608562) on chromosome 7q22; PAPA5 (263450) on chromosome 13q13; PAPA6 (615226), caused by mutation in the ZNF141 gene (194648) on chromosome 4p16; and PAPA7 (617642), caused by mutation in the IQCE gene (617631) on chromosome 7p22. [from GTR]

MedGen UID:
67394
Concept ID:
C0220697
Disease or Syndrome
7.

Polydactyly

A congenital abnormality characterized by more than 5 digits on a hand or foot. [from NCI]

MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
8.

Hydrocephalus

Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28. [from GTR]

MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
9.

Hernia

Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained. Hernia may involve tissues such as the ABDOMINAL WALL or the respiratory DIAPHRAGM. Hernias may be internal, external, congenital, or acquired. [from MeSH]

MedGen UID:
6816
Concept ID:
C0019270
Anatomical Abnormality; Finding
10.

Diaphragmatic hernia

A congenital or acquired weakness or opening in the diaphragm which allows abdominal contents to protrude into the chest cavity; congenital diaphragmatic hernias are caused when the embryonic diaphragm fails to fuse. [from NCI]

MedGen UID:
5530
Concept ID:
C0019284
Anatomical Abnormality
11.

Increased head circumference

MedGen UID:
909477
Concept ID:
C4083076
Finding
12.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
892935
Concept ID:
C4020875
Pathologic Function
13.

Postaxial hand polydactyly

Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). [from HPO]

MedGen UID:
892379
Concept ID:
C2112130
14.

Delay

MedGen UID:
879911
Concept ID:
CN235300
Finding
15.

Anophthalmia - microphthalmia

MedGen UID:
879773
Concept ID:
CN235161
Finding
16.

Macrocephaly

MedGen UID:
851886
Concept ID:
CN233365
Finding
17.

Dysmorphism

MedGen UID:
832917
Concept ID:
CN228290
Finding
18.

Polydactyly

MedGen UID:
776570
Concept ID:
C2117329
Finding
19.

Growth delay

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

MedGen UID:
765377
Concept ID:
C3552463
Sign or Symptom
20.

Macrocephaly

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014). [from GTR]

MedGen UID:
745757
Concept ID:
C2243051
Disease or Syndrome; Finding
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