Hearing impairment, and Hypertrichosis

Diseases related with Hearing impairment and Hypertrichosis

In the following list you will find some of the most common rare diseases related to Hearing impairment and Hypertrichosis that can help you solving undiagnosed cases.

Top matches:

X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.

X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS Is also known as chromosome xq27.1 interchromosomal insertion syndrome|hcg|congenital generalized hypertrichosis, macias-flores type|cgh|macias flores-garcia cruz-rivera syndrome

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Abnormality of the dentition
  • Skeletal dysplasia
  • Hirsutism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.

SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME Is also known as deafness, congenital, with split hands and feet

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Frontal bossing


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME

Other less relevant matches:

Waardenburg syndrome type 2 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Waardenburg syndrome type 1 (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type 2 (WS2) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3 ) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 2Waardenburg syndrome type 2 is a genetically heterogeneous disorder. WS2B (OMIM ) has been mapped to chromosome 1p, WS2C (OMIM ) has been mapped to chromosome 8p23, WS2D (OMIM ) is caused by mutation in the SNAI2 gene (OMIM ) on chromosome 8q11, and WS2E (OMIM ) is caused by mutation in the SOX10 gene (OMIM ) on chromosome 22q13.

WAARDENBURG SYNDROME, TYPE 2A; WS2A Is also known as waardenburg syndrome without dystopia canthorum|ws2|waardenburg syndrome, type iia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Telecanthus
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 2A; WS2A

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA; CDG1AA

Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).

WAARDENBURG-SHAH SYNDROME Is also known as shah-waardenburg syndrome|waardenburg-hirschsprung syndrome|ws4|waardenburg syndrome type 4

Related symptoms:

  • Hearing impairment
  • Wide nasal bridge
  • Constipation
  • Abdominal pain
  • Telecanthus


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG-SHAH SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53 Is also known as spg53

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53

Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Hypertrichosis

Symptoms // Phenotype % cases
Synophrys Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Underdeveloped nasal alae Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Hypertrichosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Intellectual disability Short stature Seizures

Rare Symptoms - Less than 30% cases

Telecanthus Congenital sensorineural hearing impairment Premature graying of hair White forelock White eyelashes White eyebrow Gingival overgrowth Small nail Generalized hypotonia Joint hypermobility Failure to thrive Moderate hearing impairment Spasticity Intrauterine growth retardation Abnormal facial shape Kyphosis Upslanted palpebral fissure Microcephaly Aganglionic megacolon Anonychia Hirsutism Agenesis of permanent teeth Brachydactyly Prominent nasal bridge Bilateral sensorineural hearing impairment Postaxial polydactyly Metabolic acidosis Renal tubular acidosis Proximal renal tubular acidosis Delayed speech and language development Cognitive impairment Aggressive behavior Motor delay Gait disturbance Ventriculomegaly Hypertonia Poor speech Hypoplasia of teeth Neonatal hypotonia High-frequency hearing impairment Acidosis Polydactyly Selective tooth agenesis Anhidrotic ectodermal dysplasia Hyperactivity Epicanthus Depressed nasal bridge Cryptorchidism Absent toenail Cleft palate Prominent nasal septum Hidrotic ectodermal dysplasia Broad eyebrow Dystonia Toe syndactyly Difficulty walking Impaired vibratory sensation Dolichocephaly Nail dystrophy Deeply set eye Pes planus High forehead Midface retrusion Upper limb hypertonia Abnormality of the auditory canal Hyperreflexia in upper limbs Impaired proprioception Limb dystonia Ectodermal dysplasia Nail dysplasia Cortical dysplasia Clonus Conical tooth Hypotelorism Bifid nasal tip Oligodontia Lower limb spasticity Reduced number of teeth Paraplegia Joint hyperflexibility Abnormality of the hand Spastic paraplegia Triphalangeal thumb Pectus carinatum Abnormality of digit Aplasia cutis congenita Short distal phalanx of finger Severe sensorineural hearing impairment Abnormal macular morphology Widow's peak Male infertility Split foot Abnormality of the nail Low anterior hairline Split hand Tapered finger Severe short stature Clinodactyly Frontal bossing Prominent eyelashes Reduced sperm motility Abnormal spermatogenesis Congenital hypoplastic anemia Anemia of inadequate production Progressive sensorineural hearing impairment Aplasia of the 2nd finger Azoospermia Narrow palpebral fissure Infertility High palate Anemia Low-set ears Congenital, generalized hypertrichosis Generalized hypertrichosis Gingival fibromatosis Spina bifida Overgrowth Skeletal dysplasia Abnormality of the dentition Hitchhiker thumb Cleft lip Deep philtrum Abnormal intestine morphology Long eyelashes Depressed nasal ridge Macroglossia Thick vermilion border Thick eyebrow Coarse facial features Short neck Olfactory lobe agenesis Abnormality of the nose Abnormal eyebrow morphology Hypopigmentation of hair Intestinal obstruction Abnormality of vision Abnormality of retinal pigmentation Abnormality of skin pigmentation Abnormality of the eye Abdominal pain Constipation No social interaction Status epilepticus Neuronal loss in central nervous system Cerebral cortical atrophy Visual impairment Hypoplastic iris stroma Partial albinism Heterochromia iridis Blue irides Albinism Hypopigmentation of the skin Bilateral triphalangeal thumbs


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