Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997).
Genetic Heterogeneity of Seckel Syndrome
Other forms of Seckel syndrome include SCKL2 (606744), caused by mutation in the RBBP8 gene (604124) on chromosome 18q11; SCKL4 (613676), caused by mutation in the CENPJ gene (609279) on chromosome 13q12; SCKL5 (613823), caused by mutation in the CEP152 gene (613529) on chromosome 15q21; SCKL6 (614728), caused by mutation in the CEP63 gene (614724) on chromosome 3q22; SCKL7 (614851), caused by mutation in the NIN gene (608684) on chromosome 14q22; SCKL8 (615807), caused by mutation in the DNA2 gene (601810) on chromosome 10q21; SCKL9 (616777), caused by mutation in the TRAIP gene (605958) on chromosome 3p21; and SCKL10 (617253), caused by mutation in the NSMCE2 gene (617246) on chromosome 8q24.
The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see History section.
- Blepharophimosis
- Cryptorchidism
- Enamel hypoplasia
- Fetal growth restriction
- Pes planus
- Hip dislocation
- Dental malocclusion
- Micrognathia
- Pancytopenia
- Scoliosis
- Seizure
- Strabismus
- Dental crowding
- Clitoral hypertrophy
- Low-set ears
- Convex nasal ridge
- High palate
- Dislocated radial head
- Elbow flexion contracture
- Downslanted palpebral fissures
- Hyperactivity
- Single transverse palmar crease
- Prominent nose
- Delayed skeletal maturation
- Hypospadias
- Abnormal pinna morphology
- Proportionate short stature
- Talipes
- Facial asymmetry
- 11 pairs of ribs
- Sandal gap
- Cerebellar vermis hypoplasia
- Clinodactyly of the 5th finger
- Abnormally large globe
- Ivory epiphyses
- Sloping forehead
- Small anterior fontanelle
- Large basal ganglia
- Hypoplasia of proximal radius
- Hypoplasia of proximal fibula
- Cone-shaped epiphyses of the phalanges of the hand
- Abnormal finger flexion crease
- Postnatal growth retardation
- Selective tooth agenesis
- Cleft palate
- Intellectual disability
- Microcephaly
- Pachygyria
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Autosomal recessive inheritance
Seckel syndrome 1, 210600, Autosomal recessive; SCKL1 (diagnosis/ clinical suspition/ etiology investigation/ classification)
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