Hearing impairment, and Clinodactyly of the 5th finger

Diseases related with Hearing impairment and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Hearing impairment and Clinodactyly of the 5th finger 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

Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.

PROXIMAL SYMPHALANGISM Is also known as symphalangism, cushing type

Related symptoms:

  • Strabismus
  • Sensorineural hearing impairment
  • Brachydactyly
  • Clinodactyly of the 5th finger
  • Pes planus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SYMPHALANGISM

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:

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

Low 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

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME Is also known as tar syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Thrombocytopenia


SOURCES: ORPHANET MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME

Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE Is also known as metaphyseal chondrodysplasia, murk jansen type

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Low match CHAR SYNDROME

Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Top 5 symptoms//phenotypes associated to Hearing impairment and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Clinodactyly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Finger syndactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Global developmental delay Strabismus Broad forehead Abnormal facial shape Hypertelorism Finger clinodactyly Cleft palate Syndactyly Ptosis Talipes equinovarus Scoliosis Myopia Intellectual disability, mild Flexion contracture Hip dislocation Wide nasal bridge Talipes Pes planus Short neck Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Bilateral talipes equinovarus Congenital hip dislocation Microcephaly Lumbar hyperlordosis Hypercalciuria Bilateral sensorineural hearing impairment Low-set, posteriorly rotated ears Nephrocalcinosis High forehead Malar flattening Cataract Knee flexion contracture Patent ductus arteriosus Intrauterine growth retardation Severe short stature Single transverse palmar crease Delayed eruption of teeth Abnormality of cardiovascular system morphology Anemia Cryptorchidism Kyphoscoliosis Protruding ear Bifid uvula Webbed neck Thin vermilion border Osteopenia Hip dysplasia Anteverted nares Delayed speech and language development Cutaneous finger syndactyly Camptodactyly of finger Thrombocytopenia Synostosis of carpal bones Hyperlordosis Midface retrusion Brachydactyly Prominent forehead Shallow acetabular fossae Metaphyseal dysostosis Non-midline cleft lip Thick skull base Prominent supraorbital arches in adult Generalized hypotonia Increased serum ferritin Iron deficiency anemia Microcytic anemia Distal/middle symphalangism of 5th finger Hypoplastic toenails Narrow mouth Polycystic ovaries Thin upper lip vermilion Metaphyseal cupping Conductive hearing impairment Hydronephrosis Synophrys Joint hypermobility Flat face Esotropia Wide cranial sutures Hyperphosphaturia Metaphyseal chondrodysplasia Rickets Waddling gait Overgrowth Choanal atresia Bowing of the long bones Short ribs Osteolysis Short long bone Disproportionate short-limb short stature Elevated alkaline phosphatase Prominent supraorbital ridges Hypercalcemia Bowing of the legs Enlarged joints Hypophosphatemia Pathologic fracture Hip contracture Hypoparathyroidism Upper limb undergrowth Choanal stenosis Misalignment of teeth Clubbing of fingers Nuclear cataract Ectopic anus Renal dysplasia Abnormality of the elbow Abnormality of the fingernails Mixed hearing impairment Dental crowding Hand polydactyly Premature birth Anal atresia Coarctation of aorta Depressed nasal ridge Congenital cataract Bicuspid aortic valve Severe global developmental delay Joint stiffness Coarse hair Photophobia Macrotia Supernumerary nipple Hypodontia Visual impairment Prominent occiput Short middle phalanx of the 5th finger Persistence of primary teeth Triangular mouth Mesoaxial hand polydactyly No permanent dentition Parasomnia Muscular ventricular septal defect Symphalangism of the 5th finger Mesoaxial foot polydactyly Broad nasal tip Proptosis Bilateral single transverse palmar creases Congestive heart failure Patent foramen ovale Severe sensorineural hearing impairment High myopia Large forehead Elliptocytosis Broad distal phalanx of finger Mild conductive hearing impairment Cleft hard palate Low-set ears Depressed nasal bridge Ventricular septal defect Short nose Sleep disturbance Long philtrum Hypoplasia of penis Polydactyly Craniosynostosis Short philtrum Toe syndactyly Thick eyebrow Convex nasal ridge Thick vermilion border Everted lower lip vermilion Highly arched eyebrow Retrognathia Ulnar deviation of the hand or of fingers of the hand Brachycephaly Hyperactivity Lower limb asymmetry Acetabular dysplasia Dislocation of the femoral head Growth delay Failure to thrive Motor delay Behavioral abnormality Abnormality of metabolism/homeostasis Delayed skeletal maturation Osteoporosis Hypogonadism Hypoglycemia Thoracic scoliosis Postnatal growth retardation Attention deficit hyperactivity disorder Small for gestational age Low posterior hairline Decreased body weight Insulin resistance Cafe-au-lait spot Low anterior hairline Radial deviation of finger Congenital sensorineural hearing impairment Truncal obesity Severe intrauterine growth retardation Hypoplasia of the odontoid process Dislocated radial head Severe postnatal growth retardation Abnormality of the metacarpal bones Pancytopenia Radioulnar synostosis Petechiae Radial bowing Aplastic anemia Ulnar bowing Congenital thrombocytopenia Amegakaryocytic thrombocytopenia Limited pronation/supination of forearm Proximal radio-ulnar synostosis Megakaryocytopenia Elbow dislocation Limited elbow extension Tarsal synostosis Abnormality of the wrist Elbow ankylosis Proximal symphalangism Abnormal finger flexion creases Proximal/middle symphalangism of 5th finger Metacarpophalangeal synostosis Pain Genu valgum Rhizomelia Coxa vara Mild short stature Abnormality of the mouth Short attention span Blindness Absent radius Camptodactyly of toe Abnormality of the kidney Abnormal cardiac septum morphology Tetralogy of Fallot Broad thumb Horseshoe kidney Coxa valga Abnormality of the genitourinary system Adducted thumb Genu varum Abnormality of coagulation Patellar dislocation Abnormality of the rib cage Fused cervical vertebrae Aplasia of the uterus Fibular aplasia Phocomelia Aplasia/Hypoplasia of the patella Cervical ribs Aplasia/Hypoplasia of the ulna Aplasia/hypoplasia of the humerus Nevus flammeus of the forehead Tibial torsion Axial malrotation of the kidney Abnormality of the skeletal system Decreased hip abduction Down-sloping shoulders Concave nasal ridge Abnormality of the foot Neonatal hyperbilirubinemia Prelingual sensorineural hearing impairment Small placenta Congenital bilateral ptosis High palate Epicanthus Pectus excavatum Deeply set eye Camptodactyly Retinopathy Arthrogryposis multiplex congenita Ophthalmoplegia Facial asymmetry Thoracolumbar scoliosis Abnormality of skin pigmentation Triangular face Limitation of joint mobility Dandy-Walker malformation Interphalangeal joint contracture of finger Short phalanx of finger Abnormal vertebral morphology Pterygium Overlapping toe Decreased muscle mass Submucous cleft hard palate Distal arthrogryposis Pulverulent cataract


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