Seckel syndrome
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A child with severe proportionate short stature has a "bird-like" face with a prominent beaked nose and receding forehead. Microcephaly is severe with intellectual disability.
AR; ATR, PCNT, others (DNA damage response genes)
- Severe intrauterine and postnatal growth restriction
- Severe microcephaly with intellectual disability
- "Bird-headed" facies
- Hematologic abnormalities (some)
- Clinical: severe proportionate pre- and postnatal growth failure with severe microcephaly and the characteristic facies
- Confirm with molecular testing of DNA damage response genes (ATR, PCNT, RBBP8, others); often via a microcephalic primordial growth failure panel
- Brain imaging (simplified gyral pattern) and baseline complete blood count to evaluate for hematologic abnormalities
- Supportive and multidisciplinary: developmental/educational support, nutritional optimization, and growth monitoring
- Periodic complete blood counts given the risk of cytopenias; evaluate for hematologic malignancy if abnormal
- Neurologic monitoring (seizures, developmental progress); standard care of associated anomalies
- Genetic counseling: autosomal recessive, 25% recurrence risk for siblings
"Seagull Skull": Think of "Seckull" as "Seagull Skull": patients have a "bird-headed appearance" (beaked nose, receding forehead, prominent eyes, micrognathia). Patients are always below the "Seckond" (2nd) percentile for weight, height, and head circumference. SE-CKEL has issues with the "SEll CyKEL" (cell cycle): the gene ATR is a Serine/Threonine kinase involved in the DNA damage response.