Hearing impairment, and Pectus excavatum

Diseases related with Hearing impairment and Pectus excavatum

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

Top matches:

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 autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Other less relevant matches:

Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 5 Is also known as oi type 5|oi, type v

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 5

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

Waardenburg syndrome type 2 is an 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 inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene (OMIM ), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).For a description of other clinical variants of Waardenburg syndrome, see WS1 (OMIM ), WS3 (OMIM ), and WS4 (OMIM ).

WAARDENBURG SYNDROME, TYPE 2E; WS2E Is also known as hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|waardenburg syndrome, type 2e, with or without neurologic involvement|ws2e, with or without neurologic involvement|waardenburg syndrome, type iie

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 2E; WS2E

Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).

OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 Is also known as oi2b, formerly|osteogenesis imperfecta, type iib, formerly|oi, type vii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VII; OI7

Top 5 symptoms//phenotypes associated to Hearing impairment and Pectus excavatum

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Myopia Generalized hypotonia Ataxia Nystagmus Blue sclerae Pectus carinatum Midface retrusion Global developmental delay Short stature

Rare Symptoms - Less than 30% cases

Increased susceptibility to fractures Round face Microcephaly Osteopenia Joint hypermobility Abnormality of the dentition Recurrent fractures Joint laxity Long philtrum Dentinogenesis imperfecta Bilateral sensorineural hearing impairment Vertebral compression fractures Rhizomelia Cataract Wormian bones High palate Craniosynostosis Relative macrocephaly Joint contracture of the hand Arachnodactyly Seizures Arthralgia Arthropathy Anteverted nares Malar flattening Abnormality of the eye Platyspondyly Retinal detachment High myopia Osteoarthritis Anosmia Pes planus Micrognathia Glossoptosis Pierre-Robin sequence Exostoses Areflexia Gait ataxia Autism Difficulty walking Delayed eruption of teeth Abnormality of the nervous system Pes cavus Hypopigmentation of the skin Telecanthus Dilatation Distal muscle weakness Abnormality of the foot Aganglionic megacolon Visual loss Hypertonia Muscular hypotonia of the trunk Short thumb Distal amyotrophy Excessive daytime somnolence Peripheral demyelination Sensory impairment Paraparesis Skeletal muscle hypertrophy Progressive sensorineural hearing impairment Impaired pain sensation Thoracic scoliosis Ulnar deviation of the hand Wide nasal bridge Abnormality of peripheral nerve conduction Sensory neuropathy Distal sensory impairment Positive Romberg sign Distal upper limb amyotrophy Broad-based gait Cognitive impairment Language impairment Hypopigmentation of the fundus Cafe-au-lait spot Thoracolumbar scoliosis Hydronephrosis Narrow chest Micromelia Wide anterior fontanel Coxa vara Delayed gross motor development Bowing of the legs Delayed cranial suture closure Shallow orbits Breech presentation Respiratory insufficiency Bronchiolitis Wide cranial sutures Multiple prenatal fractures Protrusio acetabuli Decreased calvarial ossification Absent pulmonary artery Multiple rib fractures Hypoplastic pulmonary veins Crumpled long bones Proptosis Motor delay Hypopigmented skin patches Misalignment of teeth CNS hypomyelination Congenital sensorineural hearing impairment Albinism Premature graying of hair Severe sensorineural hearing impairment Hypoplasia of the iris Ocular albinism Blue irides Heterochromia iridis Generalized hypopigmentation Failure to thrive White hair White forelock Gait disturbance Cerebral hypomyelination White eyelashes White eyebrow Hypoplasia of the semicircular canal Aplasia of the semicircular canal Dilated vestibule of the inner ear Kyphosis Vertebral wedging Tremor Interphalangeal joint contracture of finger Abnormality of movement Chorea Cerebral visual impairment Rotary nystagmus Ankyloglossia Camptodactyly Camptodactyly of finger Tall stature Kyphoscoliosis Ectopia lentis Camptodactyly of toe Osteochondroma Increased vertebral height Abnormality of lower limb joint Broad femoral metaphyses Depressed nasal bridge Glaucoma Toe syndactyly Clinodactyly Bifid uvula Epiphyseal dysplasia Cryptorchidism Hypogonadism Micropenis Cleft upper lip Hypotelorism Primary amenorrhea Hypogonadotrophic hypogonadism Unilateral renal agenesis Abnormal joint morphology Absent speech Vitreoretinopathy Cleft soft palate Premature osteoarthritis Enlarged epiphyses Spasticity Feeding difficulties Brachydactyly Syndactyly Retinopathy Mitral valve prolapse Optic atrophy Coloboma Downslanted palpebral fissures Ventricular septal defect Short neck Patent ductus arteriosus Agenesis of corpus callosum High forehead Retrognathia Abnormality of the pinna Prominent nasal bridge Hyperplastic callus formation Iris coloboma Choanal atresia Cupped ear Broad neck Optic nerve coloboma Muscle weakness Dysarthria Skeletal muscle atrophy Low-set ears Anterior radial head dislocation Spondyloepiphyseal dysplasia Broad forehead Long fingers Abnormal vitreous humor morphology Abnormal metacarpal morphology Abnormality of metabolism/homeostasis Narrow mouth Mandibular prognathia Thin upper lip vermilion Hyperlordosis Triangular face Dense metaphyseal bands Limb undergrowth Abnormality of pelvic girdle bone morphology Mixed hearing impairment Dislocated radial head Barrel-shaped chest Biconcave vertebral bodies Limited pronation/supination of forearm Thin calvarium Externally rotated/abducted legs


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