Rare diseases · Sign or symptom
Umbilical hernia
HP:0001537
What it means
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Rare diseases that can present with this134
Very common80–99%
23- Aarskog-Scott syndrome
- Aspartylglucosaminuria
- Classic bladder exstrophy
- Deafness-intellectual disability syndrome, Martin-Probst type
- De Barsy syndrome
- Dermatosparaxis Ehlers-Danlos syndrome
- Distal deletion 19p syndrome
- Fetal minoxidil syndrome
- Intellectual disability, Buenos-Aires type
- Menkes disease
- Monosomy 9q22.3 syndrome
- Mucolipidosis type II
- Mucopolysaccharidosis type 7
- Muscular pseudohypertrophy-hypothyroidism syndrome
- Paternal uniparental disomy of chromosome 6 syndrome
- Progeroid syndrome, Petty type
- Sialidosis type 2
- Thyroid ectopia
- Thyroid hemiagenesis
- Wrinkly skin syndrome
- X-linked Ehlers-Danlos syndrome
- Xp22.13p22.2duplication syndrome
- XY type gonadal dysgenesis-associated anomalies syndrome
Common30–79%
44- 2q37microdeletion syndrome
- Ablepharon macrostomia syndrome
- Achondrogenesis
- Achondrogenesis type 1A
- Achondrogenesis type 1B
- Aneurysm-osteoarthritis syndrome
- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- Athyreosis
- Autosomal dominant Robinow syndrome
- Autosomal recessive multiple pterygium syndrome
- Autosomal recessive Robinow syndrome
- Beckwith-Wiedemann syndrome
- Cantú syndrome
- Cardiocranial syndrome, Pfeiffer type
- Cataract-aberrant oral frenula-growth delay syndrome
- Classical-like Ehlers-Danlos syndrome type 2
- Combined immunodeficiency with facio-oculo-skeletal anomalies
- Congenital hypothyroidism due to maternal intake of antithyroid drugs
- Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
- Cooper-Jabs syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Deafness-epiphyseal dysplasia-short stature syndrome
- Donnai-Barrow syndrome
- Down syndrome
- Facial dysmorphism-shawl scrotum-joint laxity syndrome
- Familial thyroid dyshormonogenesis
- GAPO syndrome
- Gorlin-Chaudhry-Moss syndrome
- Hereditary hyperekplexia
- Hydrocephaly-tall stature-joint laxity syndrome
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- Idiopathic congenital hypothyroidism
- Isolated thyroid-stimulating hormone deficiency
- Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
- Lateral meningocele syndrome
- Mucopolysaccharidosis type 2
- Non-syndromic bilambdoid and sagittal craniosynostosis
- RIN2 syndrome
- SCARF syndrome
- Shprintzen-Goldberg syndrome
- Simpson-Golabi-Behmel syndrome
- SPECC1L-related hypertelorism syndrome
- Transient neonatal diabetes mellitus
- Trisomy 20p syndrome
Sometimes5–29%
13- 22q11.2deletion syndrome
- 3MC syndrome
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- 9p13microdeletion syndrome
- Alpha-mannosidosis, infantile form
- Autism spectrum disorder due to AUTS2 deficiency
- Autosomal recessive spondylocostal dysostosis
- Beta-mercaptolactate cysteine disulfiduria
and 5 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
Also called: Umbilical hernias
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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.