Hearing impairment, and Joint laxity

Diseases related with Hearing impairment and Joint laxity

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


Top matches:

Medium match JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM


Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Medium match GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH


GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Medium match HYPERTRYPTOPHANEMIA


Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

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Other less relevant matches:

Medium match PEROXISOME BIOGENESIS DISORDER 5B; PBD5B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5B; PBD5B

Medium match X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME

Medium match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


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

Medium match BRUCK SYNDROME 1; BRKS1


Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997). Genetic Heterogeneity of Bruck SyndromeBruck syndrome-2 (OMIM ) is caused by homozygous mutation in the PLOD2 gene (OMIM ) on chromosome 3q24. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome.

BRUCK SYNDROME 1; BRKS1 Is also known as arthrogryposis-like disorder|kuskokwim disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Flexion contracture
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about BRUCK SYNDROME 1; BRKS1

Medium match OSTEOGENESIS IMPERFECTA, TYPE VII; OI7


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

Medium match BRITTLE CORNEA SYNDROME 1; BCS1


Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea SyndromeBrittle cornea syndrome-2 (BCS2 ) is caused by mutation in the PRDM5 gene (OMIM ) on chromosome 4q27.

BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as ehlers-danlos syndrome, type vib, formerly|dysgenesis mesodermalis corneae et sclerae|corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility|eds6b, formerly|fragilitas oculi with joint hyperextensibility

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Epicanthus
  • Myopia
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about BRITTLE CORNEA SYNDROME 1; BCS1

Medium match OSTEOGENESIS IMPERFECTA, TYPE X; OI10


Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE X; OI10 Is also known as oi, type x

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE X; OI10

Top 5 symptoms//phenotypes associated to Hearing impairment and Joint laxity

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Blue sclerae Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Pectus carinatum Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Dentinogenesis imperfecta Increased susceptibility to fractures Intellectual disability Visual impairment Seizures Wormian bones Hydronephrosis Spasticity Sensorineural hearing impairment Talipes Microcephaly Myopia Osteopenia Kyphoscoliosis Macrocephaly High myopia

Rare Symptoms - Less than 30% cases


Narrow chest Shallow orbits Aggressive behavior Limited elbow extension Generalized joint laxity Ataxia Nystagmus Broad-based gait Vertebral compression fractures Bronchiolitis Hyperlordosis Flexion contracture Relative macrocephaly Pectus excavatum Wide anterior fontanel Platyspondyly Protrusio acetabuli Coxa vara Recurrent fractures Micromelia Abnormal lung morphology Failure to thrive Hyperextensible skin Talipes equinovarus Kyphosis Glaucoma Proptosis Bilateral talipes equinovarus Round face Retinal detachment Decreased liver function Respiratory distress Long philtrum Craniosynostosis Chronic kidney disease Coxa valga Rhizomelia Nephrolithiasis Delayed gross motor development Pyloric stenosis Bowing of the legs Narrow forehead Delayed cranial suture closure Limb undergrowth Thoracolumbar scoliosis Respiratory insufficiency Femoral bowing Motor delay Vertebral wedging High pitched voice Genu valgum Thin ribs Abnormality of the lower limb Ankle contracture Hip contracture Restrictive ventilatory defect Multiple joint contractures Congenital contracture Pterygium Broad ribs Torticollis Chronic lung disease Triangular face Multiple prenatal fractures Breech presentation Hyperextensibility of the finger joints Disproportionate tall stature Megalocornea Inguinal hernia Soft skin Atypical scarring of skin Spondylolisthesis Buphthalmos Red hair Reduced bone mineral density Talipes valgus Midface retrusion Palmoplantar cutis laxa Keratoglobus Molluscoid pseudotumors Decreased corneal thickness Micrognathia Hallux valgus Prominent forehead Wide cranial sutures Epicanthus Malar flattening Decreased calvarial ossification Absent pulmonary artery Multiple rib fractures Hypoplastic pulmonary veins Crumpled long bones Externally rotated/abducted legs Frontal bossing High forehead Abnormality of the dentition Hernia Visual loss Scarring Joint hypermobility Mitral valve prolapse Lumbar hyperlordosis Congenital hip dislocation Keratoconus Brachydactyly Knee flexion contracture Overweight Arthralgia Pes planus Intellectual disability, moderate Camptodactyly of finger Skin rash Interphalangeal joint contracture of finger Adducted thumb Emotional lability Mood swings Behavioral abnormality Stuttering Hypersexuality Tryptophanuria Head-banging Dysarthria Tremor Gait disturbance Cerebellar atrophy Depressivity Fever Hyporeflexia Intrauterine growth retardation Coloboma Iris coloboma Joint dislocation Progressive hearing impairment Chorioretinal coloboma Multiple joint dislocation Cervical kyphosis Growth delay Elevated hepatic transaminase Strabismus Postnatal growth retardation Abnormality of the liver Hepatic failure Hepatic steatosis Full cheeks Cholestasis CNS hypomyelination Hypertelorism Areflexia Pneumonia Elbow flexion contracture Clinodactyly Dyskinesia Ventricular hypertrophy Precocious puberty Cortical dysplasia Cleft palate Feeding difficulties Syndactyly Absent speech Toe syndactyly Autistic behavior Abnormality of movement Chorea Cerebral visual impairment Rotary nystagmus Ankyloglossia Severe short stature Osteoporosis Arthrogryposis multiplex congenita Abnormality of skin pigmentation Hyperactivity Pes cavus Abnormal cerebellum morphology Rod-cone dystrophy Gait ataxia Neonatal hypotonia Dysmetria Unsteady gait Falls Retinal dystrophy Polyneuropathy Progressive cerebellar ataxia Hypoplasia of the corpus callosum Apraxia Oculomotor apraxia Gaze-evoked nystagmus Difficulty running Slow saccadic eye movements Very long chain fatty acid accumulation Elevated levels of phytanic acid Abnormal facial shape Ureteropelvic junction obstruction



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