Rare diseases · Sign or symptom
Abnormal rib morphology
Abnormality of the ribs
HP:0000772
What it means
An anomaly of the rib.
Rare diseases that can present with this99
Very common80–99%
28- Antley-Bixler syndrome
- Autosomal recessive malignant osteopetrosis
- Autosomal recessive spondylocostal dysostosis
- Axial mesodermal dysplasia spectrum
- Campomelia, Cumming type
- Cloverleaf skull-multiple congenital anomalies syndrome
- Cole-Carpenter syndrome
- Craniodiaphyseal dysplasia
- Diastrophic dysplasia
- Endosteal hyperostosis, Worth type
- Fibrochondrogenesis
- Hypophosphatasia
- Imperforate oropharynx-costovertebral anomalies syndrome
- Intellectual disability-polydactyly-uncombable hair syndrome
- Jeune syndrome
- Metatropic dysplasia
- Microcephaly-cervical spine fusion anomalies syndrome
- Monosomy 9q22.3 syndrome
- Mucopolysaccharidosis type 4
- Myhre syndrome
- Osteogenesis imperfecta
- PHAVER syndrome
- Radio-renal syndrome
- Radioulnar synostosis-microcephaly-scoliosis syndrome
- Simpson-Golabi-Behmel syndrome
- Spondyloepimetaphyseal dysplasia, Irapa type
- Spondylometaphyseal dysplasia, Sedaghatian type
- Thin ribs-tubular bones-dysmorphism syndrome
Common30–79%
38- Achondrogenesis type 1B
- Autosomal dominant popliteal pterygium syndrome
- Camptodactyly syndrome, Guadalajara type 3
- Cat-eye syndrome
- Cleidocranial dysplasia
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- Cooper-Jabs syndrome
- Craniosynostosis, Herrmann-Opitz type
- Ear-patella-short stature syndrome
- Familial osteodysplasia, Anderson type
- Gorlin syndrome
- Grant syndrome
- Heart defects-limb shortening syndrome
- Holzgreve syndrome
- Hurler syndrome
- Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- Isolated Klippel-Feil syndrome
- Juberg-Hayward syndrome
- Laryngotracheoesophageal cleft type 4
- Lethal congenital contracture syndrome type 1
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- Mayer-Rokitansky-Küster-Hauser syndrome type 2
- Melnick-Needles syndrome
- Microcephalic primordial dwarfism, Toriello type
- Microcephaly-seizures-intellectual disability-heart disease syndrome
- Mosaic trisomy 8 syndrome
- Mucopolysaccharidosis type 3
- Neurogenic thoracic outlet syndrome
- Oculocerebrocutaneous syndrome
- Otopalatodigital syndrome type 2
- Prune belly syndrome
- Renpenning syndrome
- Septopreoptic holoprosencephaly
- Tetraamelia-multiple malformations syndrome
- Thoracic outlet syndrome
- Trisomy 13 syndrome
- Ulbright-Hodes syndrome
- White forelock with malformations
Sometimes5–29%
14- 10q22.3q23.3microduplication syndrome
- Alagille syndrome
- Autosomal dominant spondylocostal dysostosis
- Cartilage-hair hypoplasia
- Cenani-Lenz syndrome
- CHARGE syndrome
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Femoral-facial syndrome
and 6 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: Rib abnormalities · Rib anomalies
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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.