Pierpont syndrome
Findings
No curated finding names Pierpont syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.
Definition from the Mondo Disease Ontology (MONDO:0011213), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
55 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.
- Broad nasal tipHPOHP:0000455
- 6 of 6 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Congenital onset · Male
- Occasional (5% to 29% of cases)
- Deep palmar creaseHPOHP:0006191
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Deep plantar creasesHPOHP:0001869
- 6 of 6 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 9 of 9 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.
- TBL1XR1HGNC:29529
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2016
Where it sits
Other names
2 names
Resolves to: Pierpont syndrome
- Also called
- plantar lipomatosis-facial dysmorphism-developmental delay syndromeplantar lipomatosis-unusual facies-developmental delay syndrome