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Crumpled ear

MedGen UID:
Concept ID:
Synonym: Crumpled ears
HPO: HP:0009901


Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCrumpled ear

Conditions with this feature

Congenital contractural arachnodactyly
MedGen UID:
Concept ID:
Congenital Abnormality
Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. Classic CCA is characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers; kyphoscoliosis (usually progressive); a marfanoid habitus (a long and slender build, dolichostenomelia, pectus deformity, muscular hypoplasia, highly arched palate); and abnormal "crumpled" ears. At the mildest end, parents who are diagnosed retrospectively upon evaluation of their more severely affected child may show a lean body build, mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. At the most severe end is "severe CCA with cardiovascular and/or gastrointestinal anomalies," a rare phenotype in infants with pronounced features of CCA (severe crumpling of the ears, arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal anomalies. Phenotypic expression can vary within and between families.
CODAS syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015).
Sweeney-Cox syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Sweeney-Cox syndrome (SWCOS) is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).
Osteogenesis imperfecta, type 20
MedGen UID:
Concept ID:
Disease or Syndrome
Osteogenesis imperfecta type XX (OI20) is a progressive deforming bone disorder characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography. Several patients have died due to respiratory failure (Moosa et al., 2019).

Recent clinical studies


Heo JS, Song JY, Choi EY, Kim EH, Kim JH, Park SE, Jeon JH
J Korean Med Sci 2017 Jan;32(1):1-3. doi: 10.3346/jkms.2017.32.1.1. PMID: 27914124Free PMC Article
Meena JP, Gupta A, Mishra D, Juneja M
J Pediatr Orthop B 2015 May;24(3):226-9. doi: 10.1097/BPB.0000000000000121. PMID: 25493702

Clinical prediction guides

Wallach SG, Argamaso RV
Plast Reconstr Surg 2001 Jul;108(1):30-7. doi: 10.1097/00006534-200107000-00006. PMID: 11420501

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