Hearing impairment, and Sparse hair

Diseases related with Hearing impairment and Sparse hair

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


Top matches:

Low match HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7 Is also known as ihh|hypogonadism, isolated hypogonadotropic|idiopathic hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7

Low match ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS


ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS Is also known as hid syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Alopecia
  • Pes cavus
  • Hyperkeratosis


SOURCES: OMIM MESH MENDELIAN

More info about ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS

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Other less relevant matches:

Low match VOGT-KOYANAGI-HARADA DISEASE


Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.

VOGT-KOYANAGI-HARADA DISEASE Is also known as uveomenigitic syndrome

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Cataract
  • Cognitive impairment
  • Visual impairment


SOURCES: ORPHANET MESH MENDELIAN

More info about VOGT-KOYANAGI-HARADA DISEASE

Low match 46,XX GONADAL DYSGENESIS


46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

46,XX GONADAL DYSGENESIS Is also known as xx female gonadal dysgenesis|46,xx pure gonadal dysgenesis|46,xx complete gonadal dysgenesis|follicular stimulating hormone-resistant ovaries|hypergonadotropic ovarian dysgenesis|xx-gd|46,xx ovarian dysgenesis|fsh-ro

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about 46,XX GONADAL DYSGENESIS

Low match MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA


MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA

Low match NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM


NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Low match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

Low match CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

Low match COFFIN-SIRIS SYNDROME 4; CSS4


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

Top 5 symptoms//phenotypes associated to Hearing impairment and Sparse hair

Symptoms // Phenotype % cases
Cleft palate Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Micropenis Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Sparse pubic hair Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Delayed puberty Delayed skeletal maturation Decreased testicular size Short stature Primary amenorrhea Gynecomastia Hypogonadotrophic hypogonadism Sparse eyelashes Microcephaly

Rare Symptoms - Less than 30% cases


Conductive hearing impairment Facial asymmetry Visual impairment Cataract Ataxia Depressivity Sparse scalp hair Abnormality of the dentition Azoospermia Intrauterine growth retardation Osteopenia Global developmental delay Eunuchoid habitus Secondary amenorrhea Alopecia Ichthyosis Pes cavus Depressed nasal bridge Bilateral cryptorchidism Anosmia Bimanual synkinesia Abnormality of the eye Abnormality of eye movement Sparse and thin eyebrow Hypogonadism Microphallus Abnormal renal morphology Testicular atrophy Congenital sensorineural hearing impairment Impotence Bilateral renal agenesis Alobar holoprosencephaly Hyposmia Anodontia Unilateral renal agenesis Decreased circulating luteinizing hormone level Holoprosencephaly Absence of secondary sex characteristics Hypotelorism Increased female libido Decreased testosterone in males Female hypogonadism Hypoplasia of the ovary Olfactory lobe agenesis Absence of pubertal development Decreased serum testosterone level Abnormality of body height Male hypogonadism Breast hypoplasia High palate Generalized joint laxity Cleft lip Oral cleft Sparse body hair Hypoplasia of the uterus Renal agenesis Non-obstructive azoospermia Hypothalamic gonadotropin-releasing hormone deficiency Thick eyebrow Muscular hypotonia Feeding difficulties Anteverted nares Abnormality of cardiovascular system morphology Coarse facial features Wide mouth Hirsutism Generalized hypotonia Wide nose Macroglossia Dandy-Walker malformation Hypertrichosis Long eyelashes Abnormal corpus callosum morphology Thick nasal alae Scoliosis Seizures Decreased circulating follicle stimulating hormone level Camptodactyly of finger Leydig cell insensitivity to gonadotropin Total anosmia Growth delay Flexion contracture Microphthalmia Kyphoscoliosis Deeply set eye Congenital cataract Intellectual disability Single transverse palmar crease Convex nasal ridge Interphalangeal joint contracture of finger Cutaneous photosensitivity Scrotal hypoplasia Rocker bottom foot Large beaked nose Abnormality of the voice Preauricular skin tag Wide intermamillary distance Retinal detachment Microtia Atresia of the external auditory canal Macrocytic anemia Unilateral cryptorchidism Cognitive impairment Glaucoma Hypopigmented skin patches Downslanted palpebral fissures Premature graying of hair Abnormal eyelash morphology Vitiligo Abnormal eyebrow morphology Poliosis Abnormality of metabolism/homeostasis Arachnodactyly Midface retrusion Anemia Reduced bone mineral density Hypotrichosis Infertility Amenorrhea Sparse axillary hair Hyperkeratosis Scarring Papule Palmoplantar keratoderma Cobblestone-like hyperkeratosis Recurrent skin infections Erythroderma Keratitis Squamous cell carcinoma Absent eyelashes Scarring alopecia of scalp Punctate keratitis Ambiguous genitalia Premature ovarian insufficiency Camptodactyly Stenosis of the external auditory canal Bicuspid aortic valve Sparse eyebrow Cupped ear Preauricular pit Hydroureter Glossoptosis Trismus Hypoplasia of the maxilla Eyelid coloboma Mandibulofacial dysostosis Delayed eruption of primary teeth Lower eyelid coloboma Hypertelorism Osteoporosis Anxiety Dental crowding Everted lower lip vermilion Pulmonary fibrosis Aplasia/hypoplasia of the uterus Decreased fertility Gonadal dysgenesis Increased circulating gonadotropin level Decreased serum estradiol Streak ovary Aplasia/Hypoplasia of the breasts Osteoporosis of vertebrae Coloboma Abnormality of secondary sexual hair Abnormal facial shape Low-set ears Wide nasal bridge Short nose Abnormality of the pinna Protruding ear Aplasia/Hypoplasia of the distal phalanges of the hand



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