Hearing impairment, and Coloboma

Diseases related with Hearing impairment and Coloboma

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

Top matches:

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development
  • Peripheral neuropathy
  • Coloboma


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108

Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).

TREACHER COLLINS SYNDROME 3; TCS3 Is also known as mandibulofacial dysostosis, treacher collins type, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Downslanted palpebral fissures
  • Malar flattening


SOURCES: MESH OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 3; TCS3

Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Downslanted palpebral fissures
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 2; TCS2

Other less relevant matches:

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Myopia
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM

Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

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

Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

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

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Iris coloboma Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Nystagmus Intellectual disability Microphthalmia Conductive hearing impairment Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Glaucoma Macrocephaly Preauricular pit Microtia Low-set ears Abnormality of the dentition Visual impairment Strabismus Abnormality of the pinna Progressive hearing impairment Retinal detachment Chorioretinal coloboma Cupped ear Scoliosis Atresia of the external auditory canal Bilateral conductive hearing impairment Mandibulofacial dysostosis Lower eyelid coloboma Facial asymmetry Choanal atresia Malar flattening Microcornea Agenesis of premolar Periodontitis Lens coloboma Hypodontia Full cheeks Odontoma High-frequency sensorineural hearing impairment Pulp stones Ectodermal dysplasia Macrodontia High-frequency hearing impairment Retinal coloboma Bilateral sensorineural hearing impairment Abnormality of dental enamel Taurodontia Long face Hypoplasia of dental enamel Ankylosis Delayed eruption of teeth Long philtrum Increased number of teeth Gingival overgrowth Carious teeth Progressive sensorineural hearing impairment Displacement of the external urethral meatus Short neck Otitis media with effusion Optic nerve coloboma Bilateral single transverse palmar creases Type II diabetes mellitus Hypoplasia of penis Finger syndactyly Low-set, posteriorly rotated ears Brachycephaly Obesity Abnormality of cardiovascular system morphology Renal insufficiency Brachydactyly Epicanthus Cryptorchidism Ataxia Hand polydactyly Abnormality of the maxilla Congenital hepatic fibrosis Broad neck Prominent nasal bridge Delayed eruption of primary teeth Retrognathia High forehead Agenesis of corpus callosum Patent ductus arteriosus Pectus excavatum Ventricular septal defect High palate Abnormality of the dental pulp Abnormality of molar morphology Abnormality of canine Anteverted nares Depressivity Eyelid coloboma Joint dislocation Bilateral cleft lip Posterior embryotoxon Hematuria Oral cleft Cleft upper lip Corneal opacity Cleft lip Optic atrophy Ptosis Cervical kyphosis Multiple joint dislocation Bilateral talipes equinovarus High myopia Neural tube defect Talipes Pectus carinatum Joint laxity Kyphoscoliosis Proptosis Kyphosis Talipes equinovarus Myopia Choanal stenosis Abnormality of the ear Peripheral neuropathy Delayed speech and language development Bilateral cleft lip and palate Generalized hypotonia Trismus Alopecia Stenosis of the external auditory canal Glossoptosis Hydroureter Sparse eyebrow Bicuspid aortic valve Sparse eyelashes Sparse and thin eyebrow Preauricular skin tag Dental crowding Hypoplasia of the maxilla Everted lower lip vermilion Protruding ear Short nose Frontal bossing Wide nasal bridge Abnormal facial shape Generalized hypopigmentation Blue irides Osteopetrosis Shallow orbits Premature graying of hair Albinism Congenital sensorineural hearing impairment Congenital cataract Telecanthus Posteriorly rotated ears Abnormality of the antitragus


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Hip dysplasia, related diseases and genetic alterations Autoimmunity and Cerebellar vermis hypoplasia, related diseases and genetic alterations Dysarthria and Hypertrichosis, related diseases and genetic alterations Optic atrophy and Sensory neuropathy, related diseases and genetic alterations Abnormal facial shape and Hemolytic anemia, related diseases and genetic alterations