progeroid and marfanoid aspect-lipodystrophy syndrome
MONDO:0014831Mondo
Findings
No curated finding names progeroid and marfanoid aspect-lipodystrophy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
48 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.
- Absence of subcutaneous fatHPOHP:0007485
- 1 of 1 reported patient
- Aortic root aneurysmHPOHP:0002616
- 1 of 1 reported patient
- ArachnodactylyHPOHP:0001166
- 1 of 1 reported patient
- Broad foreheadHPOHP:0000337
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Dural ectasiaHPOHP:0100775
- 1 of 1 reported patient
- Ectopia lentisHPOHP:0001083
- 1 of 1 reported patient
- Feeding difficulties in infancyHPOHP:0008872
- 1 of 1 reported patient
- Generalized lipodystrophyHPOHP:0009064
- 1 of 1 reported patient
- High myopiaHPOHP:0011003
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
Show the remaining 36
- High, narrow palateHPOHP:0002705
- 1 of 1 reported patient
- HydrocephalusHPOHP:0000238
- 1 of 1 reported patient
- Hyperextensibility of the finger jointsHPOHP:0001187
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Keratoconjunctivitis siccaHPOHP:0001097
- 1 of 1 reported patient
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.
- FBN1HGNC:3603
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: progeroid and marfanoid aspect-lipodystrophy syndrome
- Also called
- Marfan lipodystrophy syndrome