Seckel syndrome 7
Findings
No curated finding names Seckel syndrome 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.
Definition from the Mondo Disease Ontology (MONDO:0013922), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
27 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.
- Abnormal carpal morphologyHPOHP:0001191
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Central hypothyroidismHPOHP:0011787
- 2 of 2 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- 2 of 2 reported patients · Childhood onset
- Frequent (30% to 79% of cases)
- Hip dysplasiaHPOHP:0001385
- 2 of 2 reported patients
Genes
1 gene
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.
- NINHGNC:14906
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: Seckel syndrome 7
- Also called
- microcephalic primordial dwarfism, Dauber typeNIN Seckel syndromeSCKL7Seckel syndrome caused by mutation in NINSeckel syndrome type 7