Seckel syndrome
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vidit Bhargava, M.B.B.S [2]
Synonyms and keywords:
Seckel syndrome 1: Bird-headed dwarfism; Microcephalic Primordial Dwarfism 1; Nanocephalic dwarfism; Seckel-type dwarfism Seckel syndrome 2: Bird-headed dwarfism 2; Microcephalic Primordial Dwarfism 2; Seckel-type dwarfism 2
Overview
The Seckel syndrome or microcephalic primordial dwarfism is a congenital nanosomic disorder supposed to be caused by defects of genes onchromosome 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.
Historical Perspective
Classification
Pathophysiology
Genetics
Associated Conditions
Gross Pathology
Microscopic Pathology
Causes
Life Threatening Causes
Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated.
Common Causes
Causes by Organ System
| Cardiovascular | No underlying causes |
| Chemical / poisoning | No underlying causes |
| Dermatologic | No underlying causes |
| Drug Side Effect | No underlying causes |
| Ear Nose Throat | No underlying causes |
| Endocrine | No underlying causes |
| Environmental | No underlying causes |
| Gastroenterologic | No underlying causes |
| Genetic | No underlying causes |
| Hematologic | No underlying causes |
| Iatrogenic | No underlying causes |
| Infectious Disease | No underlying causes |
| Musculoskeletal / Ortho | No underlying causes |
| Neurologic | No underlying causes |
| Nutritional / Metabolic | No underlying causes |
| Obstetric/Gynecologic | No underlying causes |
| Oncologic | No underlying causes |
| Opthalmologic | No underlying causes |
| Overdose / Toxicity | No underlying causes |
| Psychiatric | No underlying causes |
| Pulmonary | No underlying causes |
| Renal / Electrolyte | No underlying causes |
| Rheum / Immune / Allergy | No underlying causes |
| Sexual | No underlying causes |
| Trauma | No underlying causes |
| Urologic | No underlying causes |
| Dental | No underlying causes |
| Miscellaneous | No underlying causes |
Causes in Alphabetical Order
- A...
- Z...
Make sure that each diagnosis is linked to a page.
Differentiating type page name here from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History
A directed history should be obtained to ascertain
Symptoms
- Achondroplasia
- Cryptorchidism
- Dislocations of pelvis and elbow
- Low birth weight
- Low ears
- Microcephaly
- Pancytopenia
- Severe mental retardation (more than half of the patients have an IQ below 50)
- Small chin
- Unusually large eyes