Hearing impairment, and Hip dysplasia

Diseases related with Hearing impairment and Hip dysplasia

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

Top matches:

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).

RADIO-ULNAR SYNOSTOSIS-AMEGAKARYOCYTIC THROMBOCYTOPENIA SYNDROME Is also known as ctrus|atrus syndrome|thrombocytopenia, congenital, with radioulnar synostosis|rusat

Related symptoms:

  • Sensorineural hearing impairment
  • Syndactyly
  • Thrombocytopenia
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: ORPHANET OMIM MENDELIAN

More info about RADIO-ULNAR SYNOSTOSIS-AMEGAKARYOCYTIC THROMBOCYTOPENIA SYNDROME

Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME Is also known as gerstmann-straussler-scheinker disease|prion dementia|subacute spongiform encephalopathy, gerstmann-straussler type|encephalopathy, subacute spongiform, gerstmann-straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, pro

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

Medium match STEEL SYNDROME

Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).

STEEL SYNDROME Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about STEEL SYNDROME

Other less relevant matches:

CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME Is also known as cagsss

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME Is also known as arc syndrome|arcs

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME

SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

Top 5 symptoms//phenotypes associated to Hearing impairment and Hip dysplasia

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Hip dislocation Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Congenital hip dislocation Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Nystagmus Intellectual disability Syndactyly Conductive hearing impairment Micrognathia Inguinal hernia High palate Osteopenia Long philtrum Motor delay Anteverted nares Wide nasal bridge Short stature Clinodactyly Flexion contracture

Rare Symptoms - Less than 30% cases

Finger syndactyly Pes planus Failure to thrive Thrombocytopenia Lumbar hyperlordosis Bilateral sensorineural hearing impairment Arthrogryposis multiplex congenita Talipes Genu valgum Clinodactyly of the 5th finger Prominent forehead Depressed nasal bridge Midface retrusion Talipes equinovarus Delayed speech and language development Abnormal facial shape Hypertelorism Single transverse palmar crease Cholestasis Cholestatic liver disease Acetabular dysplasia Hypochromic anemia Feeding difficulties Smooth philtrum Strabismus Microcephaly Immunodeficiency Recurrent infections Recurrent respiratory infections Posteriorly rotated ears Upslanted palpebral fissure Respiratory tract infection High myopia Narrow mouth Umbilical hernia Cryptorchidism Pectus excavatum Hernia Atrial septal defect Myopia Cleft palate Growth hormone deficiency Shallow acetabular fossae Chronic diarrhea Hyperlordosis High forehead Gait disturbance Diarrhea Visual loss Peripheral neuropathy Dysphagia Hyporeflexia Hypodontia Tapered finger Craniosynostosis Wide mouth Developmental regression Short nose Stenosis of the external auditory canal Brachycephaly Delayed skeletal maturation Severe short stature Hypoplastic labia majora Dental malocclusion Webbed neck Gastroesophageal reflux Low posterior hairline Mitral regurgitation Hypoplasia of dental enamel Preauricular skin tag Frontal bossing Microcytic anemia Hypoparathyroidism Down-sloping shoulders Sparse lateral eyebrow Moderate global developmental delay Long toe Downslanted palpebral fissures Intrauterine growth retardation Tracheomalacia Patellar aplasia Aberrant melanosome maturation Entropion Photophobia Depressed nasal ridge Underdeveloped nasal alae Subglottic stenosis Intellectual disability, mild Splenomegaly Delayed myelination Pneumonia Thick vermilion border Delayed puberty Reduced visual acuity Retrognathia Coarse facial features Hepatosplenomegaly Thin upper lip vermilion Carious teeth Abnormality of globe location Small for gestational age Neutropenia Microtia Recurrent bacterial infections Albinism Pulmonary fibrosis Bronchomalacia Periodontitis Ocular albinism Fair hair Interstitial pneumonitis Granulocytopenia Congenital neutropenia Intermittent thrombocytopenia Increased urinary sedoheptulose Cortical gyral simplification Renal insufficiency Renal tubular dysfunction Large fontanelles Abnormal bleeding Dehydration Sloping forehead Epistaxis Ventricular hypertrophy Hypotelorism Nephrocalcinosis Hyperbilirubinemia Aminoaciduria Lissencephaly Diabetes insipidus Renal tubular acidosis Severe failure to thrive Right ventricular hypertrophy Sandal gap Talipes calcaneovalgus Ventriculomegaly Macrocephaly Prominent nasal bridge Anemia Ptosis Growth delay Short foot Barrel-shaped chest Giant cell hepatitis Nephrogenic diabetes insipidus Generalized aminoaciduria Lichenification Hepatitis Conjugated hyperbilirubinemia Metabolic acidosis Laryngomalacia Short 2nd finger Acidosis Pruritus Postprandial hyperglycemia Abnormality of the liver Proteinuria Elevated hepatic transaminase Jaundice Hyperkeratosis Abnormality of the renal tubule Hypoplasia of the corpus callosum Ventricular septal defect Muscular hypotonia Abnormal CNS myelination Neonatal asphyxia Generalized hypotonia Subcortical cerebral atrophy Hypochromic microcytic anemia Hepatomegaly Hyperglycemia Arnold-Chiari malformation Adducted thumb Nephropathy Tracheobronchomalacia Portal hypertension Short middle phalanx of finger Emphysema Recurrent hypoglycemia Steatorrhea Shallow orbits Severe postnatal growth retardation Diastasis recti Ichthyosis Breech presentation Microretrognathia Retinal detachment Epicanthus Tetraplegia Bradykinesia Memory impairment Brain atrophy Gliosis Parkinsonism Progressive cerebellar ataxia Coma Apraxia Neurodegeneration Unsteady gait Paresthesia Confusion Dysmetria Lower limb muscle weakness Poor speech Abnormality of extrapyramidal motor function Spastic tetraplegia Limb muscle weakness Slurred speech Alzheimer disease Athetosis Emotional lability Akinesia Personality changes Apathy Hyperkinesis Psychosis Mutism Muscle stiffness Truncal ataxia Hallucinations Limb ataxia Involuntary movements Clumsiness Abnormality of eye movement Paralysis Aphasia Amegakaryocytic thrombocytopenia Spasticity Ataxia Seizures Megakaryocytopenia Proximal radio-ulnar synostosis Limited pronation/supination of forearm Congenital thrombocytopenia Hyperreflexia Ulnar bowing Aplastic anemia Radial bowing Cutaneous finger syndactyly Petechiae Radioulnar synostosis Pancytopenia Cognitive impairment Dysarthria Mental deterioration Cerebral cortical atrophy Abnormality of the eye Aggressive behavior Anxiety Rigidity Difficulty walking Gait ataxia Weight loss Myoclonus Tremor Dementia Areflexia Encephalopathy Depressivity Cerebellar atrophy Myopathy Blindness Global brain atrophy Neurofibrillary tangles Visual impairment Camptodactyly Recurrent fractures Bruising susceptibility Joint hypermobility Arachnodactyly Joint hyperflexibility Pulmonic stenosis Myalgia Mitral valve prolapse Neonatal hypotonia Glaucoma Osteoporosis Abnormality of the dentition Edema Periarticular subcutaneous nodules Cervical spinal canal stenosis Microcornea Blue sclerae Thoracic kyphoscoliosis Sclerocornea Abnormality of hair pigmentation Decreased corneal thickness Keratoglobus Flat cornea Shoulder dislocation Corneal scarring Corneal erosion Soft skin Abnormality of epiphysis morphology Megalocornea Keratoconus Hallux valgus Increased susceptibility to fractures Hyperextensible skin Corneal dystrophy Cutis laxa Multiple skeletal anomalies Prelingual sensorineural hearing impairment Insomnia Broad forehead Bilateral talipes equinovarus Mild short stature Coxa vara Finger clinodactyly Rhizomelia Thin vermilion border Pain Dislocated radial head Cerebral amyloid angiopathy Perseveration Dysesthesia Supranuclear gaze palsy Hypomimic face Lewy bodies Impaired smooth pursuit Limited elbow extension Thoracic scoliosis Fasting hypoglycemia Distal sensory impairment Achalasia Spinal canal stenosis Progressive sensorineural hearing impairment Spondyloepiphyseal dysplasia Sensorimotor neuropathy Sensory impairment Sensory neuropathy Thick eyebrow Hypoplasia of the odontoid process Congenital cataract Skeletal dysplasia Abnormality of the skeletal system Cataract Dislocation of the femoral head Lower limb asymmetry Synostosis of carpal bones Nasogastric tube feeding


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