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Seckel syndrome
Seckel syndrome
Classification & external resources
| ICD-10 |
Q87.1 |
| OMIM |
210600 |
| DiseasesDB |
31625 |
The Seckel syndrome or microcephalic primordial dwarfism is a congenital nanosomic disorder supposed to be caused by defects of genes on chromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding ataxia-telangiectasia and RAD3-related protein (ATR) which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism.
Symptoms
Symptoms include:
- severe mental retardation (more than half of the patients have an IQ below 50)
- achondroplasia
- microcephaly
- sometimes pancytopenia
- cryptorchidism
- low birth weight
- dislocations of pelvis and elbow
- unusually large eyes
- low ears
- small chin
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Phakomatoses and other congenital malformations not elsewhere classified (Q85-Q89, 759) |
| Phakomatoses |
Neurofibromatosis (type I, type II) - Tuberous sclerosis - Peutz-Jeghers syndrome - Sturge-Weber syndrome - Von Hippel-Lindau disease - Incontinentia pigmenti - Ataxia telangiectasia |
| Due to known exogenous causes |
Fetal alcohol syndrome - Phocomelia (via Thalidomide) |
| Affecting multiple systems |
facial (Mobius syndrome, Goldenhar syndrome, Cyclopia, Apert syndrome)
short stature (Aarskog-Scott syndrome, Cockayne syndrome, Cornelia de Lange Syndrome, Dubowitz syndrome, Noonan syndrome, Robinow syndrome, Silver-Russell dwarfism, Seckel syndrome, Smith-Lemli-Opitz syndrome)
limbs (Holt-Oram syndrome, Klippel-Trenaunay-Weber syndrome, Nail-patella syndrome, Rubinstein-Taybi syndrome, Sirenomelia, VACTERL association)
overgrowth (Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome)
Marfan syndrome - Alport syndrome - Bardet-Biedl syndrome - Zellweger syndrome |
| Other |
spleen: Asplenia - Splenomegaly
endocrine glands: Persistent thyroglossal duct - Thyroglossal cyst
Situs inversus - Conjoined twins
Cowden syndrome - Hamartoma |
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This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Seckel_syndrome". A list of authors is available in Wikipedia.
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