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17 Possible Causes for Hirsutism, Overfolded Superior Helix

  • FGFR2-Related Bent Bone Dysplasia

    NIH Rare Diseases : 53 Bent bone dysplasia syndromeis an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. Unusual facial features include low-set ears, widely[…][]

  • Uncombable Hair Syndrome

    helix Short chin Myopathic facies Inverted nipples Pain insensitivity Horizontal eyebrow Oval face Overfolding of the superior helices Broad chin Micrognathia Neurological[] It was likely first described in the book 'Les Velus' (the Hirsute) where an affected individual was described as having mop hair [7] .[] Coarse face and body hirsutism are additional features.[]

  • Camptodactyly Syndrome Guadalajara Type 1

    Am J Med Genet. 1982;11(3):329-36 Muller Barth Menger syndrome 0 *Abnormalities, Multiple *Hand Deformities, Congenital *Hypertrichosis *Seizures *Malformations of Cortical[] […] hip dislocation Femoral bowing Tibial bowing Progressive extrapyramidal movement disorder Abnormality of vision Hypoplasia of the fallopian tube Wormian bones Microdontia Hypertrichosis[] Eur J Pediatr. 1981;136(2):207-10 Tel Hashomer camptodactyly syndrome 0 *Hand Deformities, Congenital *Heart Septal Defects, Atrial *Hirsutism *Muscular Diseases Dermatoglyphics[]

  • Branchio-Oculo-Facial Syndrome

    […] with hypoplastic superior helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear ossicles), the eyes[] […] showed atresia of external ear, preauricular pit, maxillar and mandibular hypoplasia, mild ptosis on the left side, lacrimal duct obstruction, unilateral branchial cyst, hypertrichosis[] Ear hypertrichosis may be a feature of diseases causing diffuse hypertrichosis, or may be an isolated finding.[]

  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[] Coffin-Siris syndrome - mental retardation with wide bulbous (pugilistic) nose, low nasal bridge, moderate hirsutism, and digital anomalies.[] Coffin-Siris syndrome [CSS OMIM #135900] is characterized by developmental delay, coarse facial features, speech impairment, hypertrichosis, hypoplastic or absent fifth fingernails[]

  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[] This is called "hirsutism."[] The major features of Fryns syndrome are diaphragmatic hernia, coarse face with a broad, flat nasal bridge, cleft lip/palate, hirsutism, and distal limb abnormalities.[]

  • Kleiner Holmes Syndrome

    superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[] […] with Mental Retardation hypertelorism, microtia, facial clefting syndrome Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility Hypertrichosis[] […] pubis; Bending of long bones to varying degrees, particularly femora; Prominent periosteum; Brachydactyly; Areas of periosteal reaction; Areas of deficient ossification; Hirsutism[]

  • Baller-Gerold Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[] Hirsutism, coarse skin, short digits, and inguinal hernias are common.[] Other findings include a coarsened facial appearance, large low-set ears, gingival hypertrophy with macroglossia, coarse thickened skin, hirsutism, and skeletal dysplasia[]

  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[] […] vertebral bodies Abnormality of the optic nerve Infra-orbital crease Abnormality of upper lip Molar tooth sign on MRI Cephalocele Deep philtrum Intellectual disability, profound Hirsutism[] Substance CAS Registry & name Categories Source Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features 0 *Hypertrichosis *Intellectual Disability[]

  • Propionic Acidemia

    There was mild plagiocephaly and overfolding of the superior helix of each ear. The lower lip had loss of tissue in 2 lateral clefts with bulbous tissue in the center.[] In milder cases, females present later with hirsutism, menstrual irregularities, and decreased fertility. Affected males have no obvious physical signs of CAH.[] Mild 21-OH deficiency No symptoms at birth and manifests as premature sexual hair, acne, and mild growth acceleration in childhood and hirsutism, excessive Revised 7/11/2013[]

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