Rare diseases · Sign or symptom
Chronic constipation
Infrequent bowel movements
HP:0012450
What it means
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Rare diseases that can present with this25
Common30–79%
13- 7q11.23microduplication syndrome
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- Classical Ehlers-Danlos syndrome
- Currarino syndrome
- Distal 16p11.2 microdeletion syndrome
- Hao-Fountain syndrome due to 16p13.2 microdeletion
- Helsmoortel-Van der Aa syndrome
- Hereditary late-onset Parkinson disease
- Mosaic trisomy 20 syndrome
- PMP22-RAI1 contiguous gene duplication syndrome
- Schaaf-Yang syndrome
- Solitary rectal ulcer syndrome
- X-linked intellectual disability, Nascimento type
Sometimes5–29%
10- 16p12.1p12.3triplication syndrome
- Down syndrome
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- MOGS-CDG
- Ramos-Arroyo syndrome
and 2 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.