Hearing impairment, and Hip dislocation

Diseases related with Hearing impairment and Hip dislocation

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

Top matches:

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS7 is an autosomal dominant CMS resulting from a presynaptic defect; patients have onset of symptoms in early childhood (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC; CMS7 Is also known as myspc|myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC; CMS7

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

Low 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:

Low match 3MC SYNDROME

3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome|malpuech-michels-mingarelli-carnevale syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about 3MC SYNDROME

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

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

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C Is also known as hmsn iic|charcot-marie-tooth neuropathy, type 2c|charcot-marie-tooth disease, axonal, autosomal dominant, type 2c|cmt2c

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C

Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

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

INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

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

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Congenital hip dislocation Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Talipes equinovarus Flexion contracture Intellectual disability Delayed speech and language development Hyporeflexia Peripheral neuropathy Clinodactyly Hip dysplasia Abnormal facial shape Ataxia Microcephaly Hyperlordosis Sensorimotor neuropathy Lumbar hyperlordosis Motor delay Bilateral sensorineural hearing impairment Muscle weakness Distal muscle weakness

Rare Symptoms - Less than 30% cases

Epicanthus Downturned corners of mouth Abnormality of the skeletal system Strabismus Proximal placement of thumb Distal sensory impairment Blepharophimosis Anteverted nares Prominent forehead Midface retrusion Myopia Urinary incontinence Genu valgum Talipes Failure to thrive Difficulty walking Tetraparesis Generalized hypotonia Growth delay Sensory neuropathy Macrocephaly Radioulnar synostosis Skeletal muscle atrophy Fatigue Areflexia Pes cavus Limb muscle weakness Abnormality of the foot Hammertoe Clinodactyly of the 5th finger Finger syndactyly Syndactyly Skeletal dysplasia Limited pronation/supination of forearm Shallow acetabular fossae Respiratory insufficiency Palmoplantar cutis laxa Shoulder girdle muscle atrophy Diaphragmatic weakness Vocal cord paresis Hand muscle atrophy Bilateral vocal cord paralysis Intercostal muscle weakness Decreased distal sensory nerve action potential Bilateral vocal cord paresis Polyneuropathy Neoplasm Talipes valgus Apnea Paralysis Red hair Anemia Dolichocephaly Keratoglobus Abducens palsy Respiratory distress Urinary urgency Pectus excavatum Hoarse voice Respiratory failure Foot dorsiflexor weakness Knee flexion contracture Sleep apnea Dysphonia Spinal muscular atrophy Stridor Wheezing Progressive peripheral neuropathy Obstructive sleep apnea Down-sloping shoulders Decreased corneal thickness Vocal cord paralysis Peripheral axonal neuropathy Hand muscle weakness Molluscoid pseudotumors Oculomotor nerve palsy Inspiratory stridor Distal amyotrophy Ovarian neoplasm Intrauterine growth retardation Cerebellar atrophy Spondyloepiphyseal dysplasia Progressive sensorineural hearing impairment Spinal canal stenosis Achalasia Fasting hypoglycemia Prelingual sensorineural hearing impairment Thoracic kyphoscoliosis Multiple skeletal anomalies Cervical spinal canal stenosis Periarticular subcutaneous nodules Hepatomegaly Brachycephaly Sensory impairment Hypothyroidism Thin upper lip vermilion Progressive cerebellar ataxia Decreased fetal movement Postnatal microcephaly Exotropia Hepatic fibrosis Progressive microcephaly Steatorrhea Shawl scrotum Exocrine pancreatic insufficiency Ankle contracture Growth hormone deficiency Thick eyebrow Microphthalmia Breast carcinoma Upslanted palpebral fissure Coarse facial features Conductive hearing impairment Carcinoma Sparse hair Prominent nasal bridge Hypopigmentation of the skin Dental malocclusion Long eyelashes Low anterior hairline Bone marrow hypocellularity Narrow palate Dentinogenesis imperfecta Congenital cataract Chromosome breakage Thick upper lip vermilion Stomach cancer Macrodontia Duodenal stenosis Ovarian carcinoma Nystagmus Cataract Depressed nasal bridge Long philtrum Narrow mouth Osteopenia Hyperextensibility of the finger joints Absent pubertal growth spurt Buphthalmos Postnatal growth retardation Thoracic scoliosis Hypoplasia of the odontoid process Synostosis of carpal bones Lower limb asymmetry Acetabular dysplasia Dislocation of the femoral head Ptosis Low-set ears Downslanted palpebral fissures Umbilical hernia Telecanthus Abnormality of the pinna Limited elbow extension Craniosynostosis Oral cleft Highly arched eyebrow Spina bifida occulta Bilateral cryptorchidism Supernumerary nipple Diastasis recti Abnormal anterior chamber morphology Abnormal nasal morphology Epicanthus inversus Caudal appendage Dislocated radial head Bilateral talipes equinovarus Prominent coccyx Ulnar bowing Gait disturbance Proximal muscle weakness Vertigo Easy fatigability Increased muscle fatiguability Thrombocytopenia Pancytopenia Petechiae Cutaneous finger syndactyly Radial bowing Aplastic anemia Congenital thrombocytopenia Mild short stature Amegakaryocytic thrombocytopenia Proximal radio-ulnar synostosis Megakaryocytopenia Pain Wide nasal bridge Pes planus Broad forehead Thin vermilion border Rhizomelia Finger clinodactyly Coxa vara Large fleshy ears Seizures Spondylolisthesis Retinal detachment Abnormality of the musculature of the lower limbs Focal myoclonic seizures Frontal bossing Abnormality of the dentition Hernia Visual loss Glaucoma Joint laxity Scarring Pectus carinatum Joint hypermobility Mitral valve prolapse Exophoria High myopia Blue sclerae Reduced bone mineral density Hyperextensible skin Increased susceptibility to fractures Hallux valgus Disproportionate tall stature Keratoconus Megalocornea Soft skin Atypical scarring of skin Delayed peripheral myelination Structural foot deformity Muscular hypotonia Generalized tonic-clonic seizures Spasticity Dysarthria Hypoplasia of the corpus callosum Dystonia Kyphosis Cerebral atrophy Obesity Deeply set eye Muscular hypotonia of the trunk Developmental regression Spastic paraplegia Paraplegia Puberty and gonadal disorders Unsteady gait Inability to walk Retinal dystrophy Generalized myoclonic seizures Delayed myelination Waddling gait Broad-based gait Lower limb spasticity Fasciculations Progressive spastic paraplegia Overweight Cerebral white matter atrophy Pancreatic fibrosis


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