Hearing impairment, and Arthrogryposis multiplex congenita

Diseases related with Hearing impairment and Arthrogryposis multiplex congenita

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

Top matches:

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 2; BRWS2

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Other less relevant matches:

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Medium match RFT1-CDG

RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).

RFT1-CDG Is also known as congenital disorder of glycosylation type in|cdg1n|cdg-in|cdg syndrome type in|carbohydrate deficient glycoprotein syndrome type in|man5glcnac2-pp-dol flippase deficiency|cdgin|cdg in|congenital disorder of glycosylation type 1n

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RFT1-CDG

Medium match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL SYNDROME

COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Medium match METATROPIC DYSPLASIA

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Top 5 symptoms//phenotypes associated to Hearing impairment and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Kyphoscoliosis Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Abnormality of the foot Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Scoliosis Flexion contracture Micrognathia Failure to thrive Feeding difficulties Seizures Respiratory insufficiency Ptosis Microcephaly Talipes Abnormal heart morphology Joint stiffness Myopathy Epicanthus Downturned corners of mouth Webbed neck Cleft palate Motor delay Muscular hypotonia Talipes equinovarus Generalized hypotonia High palate Multiple joint contractures Kyphosis Congenital contracture Camptodactyly of finger Severe short stature

Rare Symptoms - Less than 30% cases

Peripheral axonal neuropathy Protruding ear Dehydration Generalized myoclonic seizures Coma Generalized tonic-clonic seizures Adducted thumb Bilateral ptosis Retinopathy Weight loss Intellectual disability, severe Intrauterine growth retardation Camptodactyly Clinodactyly of the 5th finger Pectus excavatum Apraxia Glycosuria Hyperglycemia Hypovolemia Cognitive impairment Respiratory failure Interphalangeal joint contracture of finger Congenital hip dislocation Facial asymmetry Hepatomegaly Cerebral atrophy Abnormality of the upper urinary tract Neurodevelopmental delay Myoclonus Cerebral cortical atrophy Autoimmune antibody positivity Ketonuria Renal tubular dysfunction Prominent metopic ridge Triangular face Contractures of the joints of the lower limbs Cryptorchidism Ataxia Downslanted palpebral fissures Hyperlordosis Platyspondyly Knee flexion contracture Pterygium Bilateral talipes equinovarus Facial palsy Hyporeflexia Areflexia Midface retrusion Hypertelorism Sensorineural hearing impairment Ventriculomegaly Long philtrum Ankle contracture Distal arthrogryposis Telecanthus Cleft lip Muscle weakness Pachygyria Ulnar deviation of the hand or of fingers of the hand Overlapping fingers Mildly elevated creatine phosphokinase Metatarsus adductus Hypertension Rocker bottom foot Renal cyst Narrow palpebral fissure Short chin Delayed myelination Bilateral single transverse palmar creases Narrow face Vertebral segmentation defect Hypoplasia of the corpus callosum Hip dislocation Increased serum lactate Epileptic encephalopathy Prominent nasal bridge Mandibular prognathia Hepatic steatosis Absent phalangeal crease Abnormality of the ear Round ear Aplasia/Hypoplasia of the radius Calcaneovalgus deformity Renal insufficiency Ulnar deviation of the wrist Prominent nasolabial fold Absent speech Encephalopathy Ulnar deviation of finger Anemia Cardiomyopathy Acidosis Neonatal hypotonia Abnormality of the hip bone Lethargy Tarsal synostosis Lactic acidosis Trismus Peripheral neuropathy Narrow chest Renal hypoplasia Pseudoarthrosis Abnormal joint morphology Hypoplasia of the odontoid process Aplasia/Hypoplasia of the lungs Fetal akinesia sequence Abnormal cortical bone morphology Flared iliac wings Enlarged joints Spondylometaphyseal dysplasia Rough bone trabeculation Thoracic kyphoscoliosis Long thorax Abnormality of the intervertebral disk Caudal appendage Severe platyspondyly Akinesia Cervical instability Abnormal enchondral ossification Anisospondyly Flared femoral metaphysis Hypoplastic cervical vertebrae Short diaphyses Flared humeral metaphysis Snail-like ilia Relatively short spine Abnormal metaphyseal vascular invasion Long coccyx Dumbbell-shaped metaphyses Halberd-shaped pelvis Hyperplasia of the femoral trochanters Short finger Epiphyseal dysplasia Renal dysplasia Cataract Decreased liver function Fasciculations Severe muscular hypotonia CNS hypomyelination Chronic kidney disease Failure to thrive in infancy Hyponatremia Hyperkalemia Renal tubular acidosis Hypoventilation Increased CSF lactate Breech presentation Tongue fasciculations Microvesicular hepatic steatosis Depressed nasal bridge Short ribs Brachydactyly Hydrocephalus Prominent forehead High forehead Skeletal dysplasia Low-set, posteriorly rotated ears Posteriorly rotated ears Micromelia Confusion Limb undergrowth Abnormality of the ribs Osteoarthritis Abnormality of the metaphysis Abnormal form of the vertebral bodies Narrow mouth Dandy-Walker malformation Elevated serum creatine phosphokinase Pancreatic hypoplasia Wide nose Highly arched eyebrow Heterotopia Postnatal microcephaly Pointed chin Lissencephaly Trigonocephaly Long palpebral fissure Retinal coloboma Microalbuminuria Neonatal insulin-dependent diabetes mellitus Coloboma Reduced pancreatic beta cells Diabetes mellitus Insulin resistance Steatorrhea Maternal diabetes Transient neonatal diabetes mellitus Abnormality of the pancreatic islet cells Elevated hemoglobin A1c Spasticity Visual impairment Hyperreflexia Oral cleft Wide mouth Muscular hypotonia of the trunk Increased susceptibility to fractures Osteoporosis Osteopenia Joint laxity Pectus carinatum Recurrent fractures Blue sclerae Abnormal lung morphology Elbow flexion contracture Wormian bones Coxa vara Torticollis Limited elbow extension Abnormality of the pinna Restrictive ventilatory defect Hip contracture Abnormality of the lower limb Dentinogenesis imperfecta Protrusio acetabuli Vertebral wedging Abnormal facial shape Microphthalmia Agenesis of corpus callosum Retrognathia Thin upper lip vermilion Reduced visual acuity Abnormal bleeding Malar flattening Blepharophimosis Abnormality of the rib cage Decreased hip abduction Camptodactyly of toe Growth delay Low-set ears Fever Skeletal muscle atrophy Abnormality of the skeletal system Brachycephaly Conductive hearing impairment Proximal muscle weakness Long face Thoracolumbar scoliosis Generalized muscle weakness Narrow forehead Short palpebral fissure Open mouth Tented upper lip vermilion Gowers sign Myopathic facies Malignant hyperthermia Restrictive deficit on pulmonary function testing Multiple skeletal anomalies Wide nasal bridge Down-sloping shoulders Submucous cleft hard palate Abnormality of the coagulation cascade Syndactyly Mild short stature Abnormality of coagulation Inverted nipples Stroke-like episode Abnormal thrombosis Pes valgus Hyperintensity of cerebral white matter on MRI Abnormality of the posterior cranial fossa Abnormal isoelectric focusing of serum transferrin Bilateral basal ganglia lesions Intellectual disability, mild Deeply set eye Cutaneous finger syndactyly Finger syndactyly Ophthalmoplegia Abnormality of skin pigmentation Single transverse palmar crease Bifid uvula Limitation of joint mobility Lumbar hyperlordosis Short phalanx of finger Abnormal vertebral morphology Overlapping toe Decreased muscle mass Absent primary metaphyseal spongiosa


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Elevated serum creatine phosphokinase, related diseases and genetic alterations Skeletal muscle atrophy and Respiratory insufficiency, related diseases and genetic alterations Cryptorchidism and Tetralogy of Fallot, related diseases and genetic alterations Cryptorchidism and Talipes equinovarus, related diseases and genetic alterations Cataract and Pancytopenia, related diseases and genetic alterations