ablepharon macrostomia syndrome

MONDO:0008693Mondo

Findings

No curated finding names ablepharon macrostomia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.

Definition from the Mondo Disease Ontology (MONDO:0008693), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal dominant inheritance
Onset and course: Congenital onset · Fetal onset

Features

54 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.

Microtia, first degreeHPOHP:0011266
- 10 of 10 reported patients
Sparse hairHPOHP:0008070
- 9 of 10 reported patients
- Very frequent (80% to 99% of cases)
Wide mouthHPOHP:0000154
- 9 of 10 reported patients
- Very frequent (80% to 99% of cases)
AblepharonHPOHP:0011224
- 6 of 10 reported patients
- Very frequent (80% to 99% of cases)
Absent eyebrowHPOHP:0002223
- Very frequent (80% to 99% of cases)

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.

TWIST2HGNC:20670
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: hereditary disease
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
syndromic disease

Other names

2 names

Resolves to: ablepharon macrostomia syndrome

Also called: Ablepharon-Macrostomia SyndromeAMS

Show the remaining 42

Underdeveloped nasal alaeHPOHP:0000430
- Very frequent (80% to 99% of cases)
Abnormal female external genitalia morphologyHPOHP:0000055
- Frequent (30% to 79% of cases)
Absent lanugoHPOHP:0034262
- 6 of 10 reported patients
Ambiguous genitaliaHPOHP:0000062
- 3 of 10 reported patients
- Frequent (30% to 79% of cases)
Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
Aplasia/Hypoplasia of the nipplesHPOHP:0006709
- Frequent (30% to 79% of cases)
Breast hypoplasiaHPOHP:0003187
- Frequent (30% to 79% of cases)
Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
Corneal opacityHPOHP:0007957
- Frequent (30% to 79% of cases)
CryptophthalmosHPOHP:0001126
- Frequent (30% to 79% of cases)
Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)
Excessive wrinkled skinHPOHP:0007392
- Frequent (30% to 79% of cases)
Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
Hearing impairmentHPOHP:0000365
- 3 of 10 reported patients
- Frequent (30% to 79% of cases)
Hypoplasia of penisHPOHP:0008736
- Frequent (30% to 79% of cases)
Hypoplasia of the maxillaHPOHP:0000327
- Frequent (30% to 79% of cases)
MicrodontiaHPOHP:0000691
- Frequent (30% to 79% of cases)
MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
Thin skinHPOHP:0000963
- 6 of 10 reported patients
- Frequent (30% to 79% of cases)
Umbilical herniaHPOHP:0001537
- Frequent (30% to 79% of cases)
Visual impairmentHPOHP:0000505
- Frequent (30% to 79% of cases)
Premature skin wrinklingHPOHP:0100678
- 5 of 10 reported patients
CamptodactylyHPOHP:0012385
- 4 of 10 reported patients
Cutaneous finger syndactylyHPOHP:0010554
- 4 of 10 reported patients
Hypoplastic nipplesHPOHP:0002557
- 4 of 10 reported patients
Low-set earsHPOHP:0000369
- 4 of 10 reported patients
Abnormal hair patternHPOHP:0010720
- Occasional (5% to 29% of cases)
Abnormal skin pigmentationHPOHP:0001000
- Occasional (5% to 29% of cases)
Atresia of the external auditory canalHPOHP:0000413
- Occasional (5% to 29% of cases)
Corneal erosionHPOHP:0200020
- Occasional (5% to 29% of cases)
Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
OmphaloceleHPOHP:0001539
- 3 of 10 reported patients
- Occasional (5% to 29% of cases)
Thin vermilion borderHPOHP:0000233
- Occasional (5% to 29% of cases)
Toe syndactylyHPOHP:0001770
- Occasional (5% to 29% of cases)
Anteriorly placed anusHPOHP:0001545
- 3 of 10 reported patients
Hypoplasia of eyelidHPOHP:0430009
- 3 of 12 reported patients
Aplastic zygomatic archHPOHP:0034260
- 2 of 10 reported patients
MicropenisHPOHP:0000054
- 1 of 5 reported patients · Female
Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 10 reported patients
Hypoplastic fingernailHPOHP:0001804
- 1 of 10 reported patients
Single umbilical arteryHPOHP:0001195
- 1 of 10 reported patients