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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.

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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

v • d • e 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