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Abnormal number of hair whorls

MedGen UID:
Concept ID:
Synonyms: Abnormal number of hair swirls; Double crown (hair whorls); Extra hair swirls; Extra hair whorl; Supernumary hair swirls; Supernumary hair whorl
HPO: HP:0010813


More than two clockwise hair whorls. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal number of hair whorls

Conditions with this feature

Craniofacial dysplasia - osteopenia syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2.
Cardiac, facial, and digital anomalies with developmental delay
MedGen UID:
Concept ID:
Disease or Syndrome
CAFDADD is a multisystemic developmental disorder with variable cardiac and digital anomalies and facial dysmorphism. Some patients may have seizures and ocular/aural abnormalities (Tokita et al., 2018).

Recent systematic reviews

Furdon SA, Clark DA
Adv Neonatal Care 2003 Dec;3(6):286-96. doi: 10.1016/j.adnc.2003.09.005. PMID: 14695500

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