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

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

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

Related symptoms:

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


SOURCES: ORPHANET

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

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:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MONDO UMLS

More info about PEROXISOME BIOGENESIS DISORDER 5B; PBD5B

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Other less relevant matches:

Medium match YOU-HOOVER-FONG SYNDROME; YHFS

YOU-HOOVER-FONG SYNDROME; YHFS Is also known as ;you-hoover-fong syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM ORPHANET MONDO

More info about YOU-HOOVER-FONG SYNDROME; YHFS

Medium match HYPERTRYPTOPHANEMIA; HYPTRP

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; HYPTRP Is also known as hypertryptophanemia, familial;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH GARD SCTID ORPHANET MONDO OMIM UMLS

More info about HYPERTRYPTOPHANEMIA; HYPTRP

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 kuskokwim disease, arthrogryposis-like disorder

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Pica
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MONDO

More info about BRUCK SYNDROME 1; BRKS1

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:

  • Autosomal recessive inheritance
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MONDO UMLS DOID OMIM GARD

More info about OSTEOGENESIS IMPERFECTA, TYPE X; OI10

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 oi, type vii, osteogenesis imperfecta, type iib, formerly;oi2b, formerly

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive


SOURCES: GARD MONDO DOID UMLS SCTID OMIM

More info about OSTEOGENESIS IMPERFECTA, TYPE VII; OI7

Medium match STICKLER SYNDROME, TYPE I; STL1

Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. Additional findings may include midline clefting (cleft palate or bifid uvula), Pierre Robin sequence, flat midface, sensorineural or conductive hearing loss, mild spondyloepiphyseal dysplasia, and early-onset osteoarthritis (summary by Baker et al., 2011). Genetic Heterogeneity of Stickler SyndromeSee {609508} for a form of Stickler syndrome type I that is solely or predominantly ocular and is also caused by mutation in the COL2A1 gene. Stickler syndrome type II (STL2 ), sometimes called the beaded vitreous type, is caused by mutation in the COL11A1 gene (OMIM ) on chromosome 1p21. These forms of Stickler syndrome are autosomal dominant.Autosomal recessive forms of Stickler syndrome include Stickler syndrome type IV (STL4 ), caused by mutation in the COL9A1 gene (OMIM ) on chromosome 6q13, and Stickler syndrome type V (STL5 ), caused by mutation in the COL9A2 gene (OMIM ) on chromosome 1p34.A disorder previously designated Stickler syndrome type III (STL3), or 'nonocular Stickler syndrome,' has been reclassified as a form of otospondylomegaepiphyseal dysplasia (OSMEDA ).

STICKLER SYNDROME, TYPE I; STL1 Is also known as stickler syndrome, vitreous type 1, stickler syndrome, membranous vitreous type, arthroophthalmopathy, hereditary progressive;aom;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET UMLS SCTID

More info about STICKLER SYNDROME, TYPE I; STL1

Medium match PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927).

PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as olmsted syndrome;olms;mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; olmsted syndrome; palmoplantar and periorificial keratoderma

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: OMIM UMLS ORPHANET MONDO

More info about PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

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

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Visual impairment 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 Sensorineural hearing impairment Intellectual disability Blue sclerae Flexion contracture Wormian bones Pectus excavatum Platyspondyly Osteopenia Dentinogenesis imperfecta Seizures Pain Pectus carinatum Myopia Proptosis Kyphosis High myopia Kyphoscoliosis

Rare Symptoms - Less than 30% cases


Osteoporosis Micromelia Long philtrum Abnormal lung morphology Wide anterior fontanel Generalized joint laxity Narrow chest Talipes equinovarus Coxa vara Hydronephrosis Oxycephaly Midface retrusion Malar flattening Macrocephaly Micrognathia Bronchiolitis Protrusio acetabuli Cleft palate Recurrent fractures Relative macrocephaly Nevus Spasticity Motor delay Microcephaly Limited elbow extension Aggressive behavior Autosomal dominant inheritance Vertebral compression fractures Shallow orbits Retinal detachment Bilateral talipes equinovarus Talipes Ataxia Nystagmus Arthralgia Pierre-Robin sequence Otitis media Abnormal joint morphology Beaking of vertebral bodies Epiphyseal dysplasia Vitreoretinal degeneration Abnormality of epiphysis morphology Abnormality of the cardiovascular system Osteoarthritis Disproportionate tall stature Arthropathy Ectopia lentis Spondyloepiphyseal dysplasia Mitral valve prolapse Arthritis Bilateral sensorineural hearing impairment Tics Lumbar scoliosis Multiple prenatal fractures Wide cranial sutures Decreased calvarial ossification Multiple rib fractures Absent pulmonary artery Crumpled long bones Externally rotated/abducted legs Hypoplastic pulmonary veins Cataract Milia Depressed nasal bridge Anteverted nares Hypoplasia of the maxilla Blindness Short nose Coma Glaucoma Visual loss Conductive hearing impairment Skeletal dysplasia Joint hyperflexibility Retinal degeneration Flat face Arachnodactyly Joint hypermobility Retinal thinning Erythema Enlarged epiphyses Hypergranulosis Neoplasm of the skin Mutism Melanoma Squamous cell carcinoma Papilloma Curly hair Anhidrosis Neoplasm of the lung Plantar hyperkeratosis Parakeratosis Pili torti Ankylosis Oral leukoplakia Generalized osteoporosis Amniotic constriction ring Abnormality of the fingernails Abnormality of the gingiva Anal fissure Circumungual hyperkeratosis Agenesis of premolar Foot pain Autoamputation Ainhum Palmoplantar hyperhidrosis Hidrotic ectodermal dysplasia Subungual hyperkeratosis Abnormal cornea morphology Abnormal oral mucosa morphology Trichorrhexis nodosa Alopecia universalis Abnormality of the tongue Cutis laxa Thickened skin Mild myopia Delayed skeletal maturation Carcinoma Hyperhidrosis Hyperkeratosis Severe short stature Thoracolumbar scoliosis Alopecia Abnormality of the dentition Ranula Neoplasm Growth delay Abnormality of vertebral epiphysis morphology Irregular femoral epiphysis Aphakia Abnormal vitreous humor morphology Sparse hair Corneal opacity Inflammatory abnormality of the skin Ectodermal dysplasia Osteolysis Opacification of the corneal stroma Skin ulcer Fine hair Hypotrichosis Epidermal acanthosis Nail dysplasia Pruritus Hypodontia Palmoplantar keratoderma Papule Nail dystrophy Ichthyosis Carious teeth Breech presentation Triangular face Bowing of the legs Slow saccadic eye movements Unsteady gait Dysmetria Falls Polyneuropathy Abnormal cerebellum morphology Progressive cerebellar ataxia Apraxia Decreased liver function Oculomotor apraxia Difficulty running Motor polyneuropathy Very long chain fatty acid accumulation Neonatal hypotonia Elevated levels of phytanic acid Feeding difficulties Brachydactyly Syndactyly Congenital onset Absent speech Clinodactyly Toe syndactyly Abnormality of movement Chorea Cortical visual impairment Rotary nystagmus Slow progression Gait ataxia Hypertelorism Dyskinesia Coloboma Joint dislocation Chorioretinal coloboma Progressive hearing impairment Retinal coloboma Multiple joint dislocation Cervical kyphosis Abnormal facial shape Hypoplasia of the corpus callosum Hyperactivity Autistic behavior Abnormality of skin pigmentation Ventricular hypertrophy Rod-cone dystrophy Precocious puberty Broad-based gait Cortical dysplasia Peripheral neuropathy Dysarthria Gait disturbance Tremor Cerebellar atrophy Hyporeflexia Areflexia Pes cavus Pneumonia Ankyloglossia Strabismus Mania High pitched voice Prominent forehead High forehead Nephrotic syndrome Genu valgum Narrow forehead Limb undergrowth Nephrolithiasis Coxa valga Pyloric stenosis Chronic kidney disease Femoral bowing Thin ribs Inguinal hernia Broad ribs Chronic lung disease Ureteropelvic junction obstruction Failure to thrive Ptosis Respiratory insufficiency Craniosynostosis Death in infancy Round face Rhizomelia Delayed gross motor development Delayed cranial suture closure Respiratory distress Vertebral wedging Anemia Hypersexuality Fever Depressivity Pes planus Intellectual disability, moderate Camptodactyly of finger Skin rash Spontaneous abortion Adducted thumb Emotional lability Overweight Anuria Stuttering Tryptophanuria Abnormality of the lower limb Pica Hyperlordosis Arthrogryposis multiplex congenita Elbow flexion contracture Knee flexion contracture Torticollis Increased susceptibility to fractures Pterygium Restrictive ventilatory defect Multiple joint contractures Hip contracture Ankle contracture Skin fissure



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