Crandall syndrome is a very rare

congenital A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...

disorder characterised by progressive

sensorineural hearing loss Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). SNHL accounts for about 90% of rep ...

, hair loss associated with

pili torti Pili torti (singular pilus tortus; also known as "twisted hairs") is characterized by short and brittle hairs that appear flattened and twisted when viewed through a microscope.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medici ...

, and

hypogonadism Hypogonadism means diminished functional activity of the gonads—the testes or the ovaries—that may result in diminished production of sex hormones. Low androgen (e.g., testosterone) levels are referred to as hypoandrogenism and low estrogen ...

demonstrated through low levels of

luteinising hormone Luteinizing hormone (LH, also known as luteinising hormone, lutropin and sometimes lutrophin) is a hormone produced by gonadotropic cells in the anterior pituitary gland. The production of LH is regulated by gonadotropin-releasing hormone (GnRH) ...

and

growth hormone Growth hormone (GH) or somatotropin, also known as human growth hormone (hGH or HGH) in its human form, is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration in humans and other animals. It is thus important in h ...

. It is thought to be an autosomal recessive disorder closely related to

Björnstad syndrome Björnstad syndrome is an autosomal recessive congenital condition involving pili torti, sensorineural deafness, and hair abnormalities. It was first characterized in 1965, in Oslo, by prof. Roar Theodor Bjørnstad after he observed an associatio ...

which presents similarly but without hypogonadism. The condition was first reported by B. F. Crandall in 1973.

References

External links

Congenital disorders Rare syndromes Syndromes affecting hearing {{endocrine-disease-stub