Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanAymé-Gripp syndrome
ORPHA:1272Malformation syndrome
Also called Brachycephaly-deafness-cataract-intellectual disability syndrome · Brachycephaly-hearing loss-cataract-intellectual disability syndrome · Fine-Lubinsky syndrome
What it is
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
4Common30–79%
40- Asymmetric crying face
- Bilateral ptosis
- Brachycephaly
- Camptodactyly
- Cataract
- Cerebral cortical atrophy
- Chiari type I malformation
- Cleft palate
- Clinodactyly of the 5th finger
- Cryptorchidism
- Depressed nasal bridge
- Developmental cataract
- Downslanted palpebral fissures
- EEG abnormality
- Floppy infant
- High forehead
- Hydrocephalus
- Hypertelorism
- Large fontanelles
- Limitation of joint mobility
- Long philtrum
- Low-set ears
- Microtia
- Narrow mouth
- Oligodontia
- Plagiocephaly
- Posteriorly rotated ears
- Prominent metopic ridge
- Rocker bottom foot
- Seizure
- Sensorineural hearing impairment
- Shallow orbits
- Short nose
- Short stature
- Sparse scalp hair
- Tapered finger
- Thin upper lip vermilion
- Upslanted palpebral fissure
- Ventriculomegaly
- Visual impairment
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.
Gene
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.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.