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Start free with EleplanAnkyloblepharon-ectodermal defects-cleft lip/palate syndrome
ORPHA:1071Malformation syndrome
Also called AEC syndrome · Hay-Wells syndrome
What it is
An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
Key facts
- Age of onset
- Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Recorded for the broader condition
- Prevalence
- 6-9 / 10 000Ectodermal dysplasia syndrome
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
26- Absent lacrimal punctum
- Brittle hair
- Coarse hair
- Conductive hearing impairment
- Erythroderma
- Fine hair
- Generalized hypopigmentation
- Generalized hypopigmentation of hair
- Generalized hypotrichosis
- Growth delay
- Hyperconvex nail
- Hypodontia
- Hypopigmented skin patches
- Hypoplasia of the maxilla
- Nail dystrophy
- Scarring
- Short philtrum
- Skin erosion
- Sparse eyebrow
- Sparse eyelashes
- Sparse hair
- Thin skin
- Thin upper lip vermilion
- Uncombable hair
- Underdeveloped nasal alae
- Widely spaced teeth
Common30–79%
21- 2-3 toe cutaneous syndactyly
- Ankyloblepharon
- Anonychia
- Cleft lip
- Cleft palate
- Delayed speech and language development
- Diminished health-related quality of life
- Failure to thrive in infancy
- Hairshafts with longitudinal grooves
- Hammertoe
- Hypohidrosis
- Hypospadias
- Lacrimal duct atresia
- Localized hypoplasia of dental enamel
- Micrognathia
- Scarring alopecia of scalp
- Short toe
- Small, conical teeth
- Small nail
- Trismus
- Wide nasal bridge
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes reported in subtypes
Orphanet records this gene on 1 more specific entry under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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