lethal polymalformative syndrome, Boissel type
MONDO:0013050Mondo
Findings
No curated finding names lethal polymalformative syndrome, Boissel type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Death in childhood · Fetal onset
HPO, annotations 2026-09-02
Features
31 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.
- Alveolar ridge overgrowthHPOHP:0009085
- 6 of 6 reported patients
- Anteverted naresHPOHP:0000463
- 7 of 7 reported patients
- BrachydactylyHPOHP:0001156
- 6 of 6 reported patients
- Coarse facial featuresHPOHP:0000280
- 7 of 7 reported patients
- Cutis marmorataHPOHP:0000965
- 7 of 7 reported patients
- Drumstick terminal phalangesHPOHP:0006129
- 6 of 6 reported patients
- Failure to thriveHPOHP:0001508
- 8 of 8 reported patients
- HypertoniaHPOHP:0001276
- 6 of 6 reported patients
- Hypoplastic toenailsHPOHP:0001800
- 6 of 6 reported patients
- RetrognathiaHPOHP:0000278
- 7 of 7 reported patients
- Secondary microcephalyHPOHP:0005484
- 8 of 8 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 5 of 5 reported patients
Show the remaining 19
- Severe global developmental delayHPOHP:0011344
- 8 of 8 reported patients
- Short neckHPOHP:0000470
- 7 of 7 reported patients
- Skull asymmetryHPOHP:0002678
- 6 of 6 reported patients
- Thin vermilion borderHPOHP:0000233
- 7 of 7 reported patients
- Ventricular septal defectHPOHP:0001629
- 6 of 8 reported patients
- Umbilical herniaHPOHP:0001537
- 4 of 6 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.
- FTOHGNC:24678
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2026
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: lethal polymalformative syndrome, Boissel type
- Also called
- growth retardation, developmental delay, facial dysmorphism