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ORPHA:2896Malformation syndrome
What it is
A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- 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%
45- Abnormal helix morphology
- Abnormal palate morphology
- Anteverted nares
- Aphasia
- Astigmatism
- Ataxia
- Broad fingertip
- Coarse facial features
- Constipation
- Deeply set eye
- Echolalia
- Esophagitis
- Failure of eruption of permanent teeth
- Failure to thrive
- Feeding difficulties
- Finger clinodactyly
- Full cheeks
- Gastroesophageal reflux
- Global developmental delay
- Growth delay
- Hiatus hernia
- Hypotonia
- Intellectual disability
- Intellectual disability, moderate
- Microcephaly
- Mutism
- Myopia
- Narrow forehead
- Overhanging nasal tip
- Pes planus
- Pes valgus
- Prominent nasal bridge
- Short metatarsal
- Short neck
- Short philtrum
- Single transverse palmar crease
- Sleep abnormality
- Small hand
- Specific learning disability
- Tapered finger
- Thickened helices
- Thick vermilion border
- Tooth malposition
- Upslanted palpebral fissure
- Wide mouth
Common30–79%
12Sometimes5–29%
10- Aggressive behavior
- Autistic behavior
- Cryptorchidism
- Happy demeanor
- Hypopigmented skin patches
- Micropenis
- Postnatal growth retardation
- Scoliosis
and 2 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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