Seckel syndrome
Findings
No curated finding names Seckel syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.
Definition from the Mondo Disease Ontology (MONDO:0019342), read 2026-09-29. CC BY 4.0.
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CachexiaHPOHP:0004326
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Convex nasal ridgeHPOHP:0000444
- Very frequent (80% to 99% of cases)
- CraniosynostosisHPOHP:0001363
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Mild global developmental delayHPOHP:0011342
- Very frequent (80% to 99% of cases)
- Narrow faceHPOHP:0000275
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Prematurely aged appearanceHPOHP:0007495
- Very frequent (80% to 99% of cases)
- Sandal gapHPOHP:0001852
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Frequent (30% to 79% of cases)
- Abnormal earlobe morphologyHPOHP:0000363
- Frequent (30% to 79% of cases)
- Absent earlobeHPOHP:0000387
- Frequent (30% to 79% of cases)
Genes
8 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATRHGNC:882
- Supportive · Orphanet · Autosomal recessive · 2021
- ATRIPHGNC:33499
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
- CENPEHGNC:1856
- Supportive · Orphanet · Autosomal recessive · 2021
- CEP152HGNC:29298
- Supportive · Orphanet · Autosomal recessive · 2021
- CPAPHGNC:17272
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (12)
Other names
4 names
Resolves to: Seckel syndrome
- Also called
- bird-headed dwarfismnanocephalic DwarfismSCKLSeckel-type Dwarfism