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Items: 12

1.

Baraitser-Winter syndrome

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients. [from ORDO]

MedGen UID:
798068
Concept ID:
CN203351
Disease or Syndrome
2.

Baraitser-Winter syndrome 1

BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. Genetic Heterogeneity of Baraitser-Winter Syndrome Baraitser-Winter syndrome-2 (BRWS2; 614583) is caused by heterozygous mutation in the ACTG1 gene (102560) on chromosome 17q25. [from OMIM]

MedGen UID:
340943
Concept ID:
C1855722
Disease or Syndrome
3.

Developmental disorder

Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disorders. Or the problem can be both physical and mental, such as Down syndrome. The problems are usually life-long, and can affect everyday living. . There are many causes of developmental disabilities, including. -Genetic or chromosome abnormalities. These cause conditions such as Down syndrome and Rett syndrome. -Prenatal exposure to substances. Drinking alcohol when pregnant can cause fetal alcohol spectrum disorders. -Certain viral infections during pregnancy. -Preterm birth. Often there is no cure, but treatment can help the symptoms. Treatments include physical, speech, and occupational therapy. Special education classes and psychological counseling can also help. NIH: National Institute of Child Health and Human Development.  [from MedlinePlus]

MedGen UID:
3367
Concept ID:
C0008073
Mental or Behavioral Dysfunction
4.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
5.

Congenital ocular coloboma

Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular Coloboma A recessive form of ocular coloboma (216820) is caused by mutation in the SALL2 gene (602219) on chromosome 14q11. [from OMIM]

MedGen UID:
1046
Concept ID:
C0009363
Congenital Abnormality
6.

Congenital anomaly of nervous system

An abnormality of the nervous system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality; Disease or Syndrome
7.

Intellectual disability, profound

Profound mental retardation is defined as an intelligence quotient (IQ) below 20. [from HPO]

MedGen UID:
43816
Concept ID:
C0020796
Finding; Mental or Behavioral Dysfunction
8.

Mental disorder

Mental disorders include a wide range of problems, including. -Anxiety disorders, including panic disorder, obsessive-compulsive disorder, post-traumatic stress disorder, and phobias. -Bipolar disorder. -Depression. -Mood disorders. -Personality disorders. -Psychotic disorders, including schizophrenia. There are many causes of mental disorders. Your genes and family history may play a role. Your life experiences, such as stress or a history of abuse, may also matter. Biological factors can also be part of the cause. A traumatic brain injury can lead to a mental disorder. A mother's exposure to viruses or toxic chemicals while pregnant may play a part. Other factors may increase your risk, such as use of illegal drugs or having a serious medical condition like cancer. Medications and counseling can help many mental disorders. .  [from MedlinePlus]

MedGen UID:
14047
Concept ID:
C0004936
Mental or Behavioral Dysfunction
9.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
10.

Intellectual functioning 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:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
11.

Congenital anomaly of eye

Congenital absence of or defects in structures of the eye; may also be hereditary. [from MeSH]

MedGen UID:
4623
Concept ID:
C0015393
Congenital Abnormality; Disease or Syndrome
12.

Atkin syndrome

Nonsyndromic mental retardation with inconsistent clinical findings which may include an elongated face, synophrys, high nasal bridge, anteverted nostrils, highly arched palate, hyperextensible fingers, umbilical hernia, and hip dislocation. [from MCA/MR]

MedGen UID:
163230
Concept ID:
C0796206
Disease or Syndrome
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