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Start free with EleplanFOXP1 Syndrome
ORPHA:391372Malformation syndrome
Also called FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome
What it is
A rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- 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%
35- Abnormal heart morphology
- Abnormality of refraction
- Abnormality of the eye
- Abnormality of the genitourinary system
- Anxiety
- Atypical behavior
- Autistic behavior
- Brain imaging abnormality
- Broad nasal tip
- Chin with horizontal crease
- Constipation
- Downslanted palpebral fissures
- Downturned corners of mouth
- Failure to thrive
- Feeding difficulties
- Flexion contracture
- Frontal upsweep of hair
- Hypertelorism
- Intellectual disability, moderate
- Intellectual disability, severe
- Mandibular prognathia
- Motor delay
- Open mouth
- Oromotor apraxia
- Prominent nasolabial fold
- Ptosis
- Recurrent otitis media
- Recurrent upper respiratory tract infections
- Repetitive compulsive behavior
- Short attention span
- Short nose
- Single transverse palmar crease
- Spasticity
- Strabismus
- Thick vermilion border
Sometimes5–29%
21- Abnormality of the ear
- Abnormality of the kidney
- Allergy
- Attention deficit hyperactivity disorder
- Blepharophimosis
- Clinodactyly
- Decreased serum iron
- Diabetes mellitus
and 13 more in this range
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.
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