choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities.
Also known as: BCAHH, KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome.
Category: General
Symptoms associated with choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
The following symptoms have been associated with choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome in medical literature. Not everyone experiences the same symptoms.
Bilateral conductive hearing impairment
A bilateral type of conductive hearing impairment....
Conductive hearing impairment
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perceptio...
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Mixed hearing impairment
A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing...
Progressive sensorineural hearing impairment
A progressive form of sensorineural hearing impairment....
Prolonged neonatal jaundice
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of incre...
Severe sensorineural hearing impairment
A severe form of sensorineural hearing impairment....
Tests used to investigate choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Healthcare providers may order these tests when evaluating choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome. Test selection is a clinical decision made by a qualified professional.
Free T4
Measures the active form of thyroxine to help evaluate thyroid function....
Thyroid Stimulating Hormone (TSH)
Screens for thyroid disorders such as hypothyroidism and hyperthyroidism....
Conditions with overlapping symptoms
These conditions share symptoms with choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, which is why a clinical evaluation is important.
Alström syndrome
Alström syndrome is a medical condition that may be associated with various symptoms and signs....
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia is a medical condition that may be associated with var...
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characte...
Sotos syndrome
Sotos syndrome is a medical condition that may be associated with various symptoms and signs....
Sotos syndrome
Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrow...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
Frequently Asked Questions
What is choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome?
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is a health condition described in medical literature. Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities.
What are the symptoms of choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome?
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is associated with 8 symptoms in the medical literature we index, including Bilateral conductive hearing impairment, Conductive hearing impairment, Facial palsy, Gastroesophageal reflux, Mixed hearing impairment, Progressive sensorineural hearing impairment. Symptoms vary widely between individuals.
How is choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome include Free T4, Thyroid Stimulating Hormone (TSH). This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, please discuss your symptoms with a qualified healthcare provider.