Sensorineural hearing impairment, and Finger syndactyly

Diseases related with Sensorineural hearing impairment and Finger syndactyly

In the following list you will find some of the most common rare diseases related to Sensorineural hearing impairment and Finger syndactyly that can help you solving undiagnosed cases.


Top matches:

Low match ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION


Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.

ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION Is also known as shfm|ectrodactyly|split hand foot malformation

Related symptoms:

  • Sensorineural hearing impairment
  • Finger syndactyly
  • Split hand
  • Oligodactyly
  • Aniridia


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION

Low match RADIO-ULNAR SYNOSTOSIS-AMEGAKARYOCYTIC THROMBOCYTOPENIA SYNDROME


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 PROXIMAL SYMPHALANGISM


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

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Other less relevant matches:

Low match BRACHYDACTYLY TYPE B2


Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.

Related symptoms:

  • Sensorineural hearing impairment
  • Brachydactyly
  • Syndactyly
  • Finger syndactyly
  • Hypermetropia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYDACTYLY TYPE B2

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

Low match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Low match SCLEROSTEOSIS


Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Low match X-LINKED MICROCEPHALY-GROWTH RETARDATION-PROGNATHISM-CRYPTORCHIDISM SYNDROME


X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.

Related symptoms:

  • Seizures
  • Microcephaly
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED MICROCEPHALY-GROWTH RETARDATION-PROGNATHISM-CRYPTORCHIDISM SYNDROME

Low match BRACHYDACTYLY, TYPE B1; BDB1


BRACHYDACTYLY, TYPE B1; BDB1 Is also known as bdb|brachydactyly, type b

Related symptoms:

  • Sensorineural hearing impairment
  • Brachydactyly
  • Ventricular septal defect
  • Syndactyly
  • Micropenis


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE B1; BDB1

Low match THROMBOCYTOPENIA-ABSENT RADIUS 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

Top 5 symptoms//phenotypes associated to Sensorineural hearing impairment and Finger syndactyly

Symptoms // Phenotype % cases
Syndactyly Uncommon - Between 30% and 50% cases
Clinodactyly of the 5th finger Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Synostosis of carpal bones Uncommon - Between 30% and 50% cases
Cutaneous syndactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Sensorineural hearing impairment and Finger syndactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cutaneous finger syndactyly Tarsal synostosis Strabismus Hip dislocation

Rare Symptoms - Less than 30% cases


Distal symphalangism Absent fingernail Cutaneous syndactyly of toes Distal symphalangism of hands Symphalangism affecting the phalanges of the hand Aplasia/Hypoplasia of the distal phalanges of the toes Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Proximal symphalangism of hands Short 1st metacarpal Carpal synostosis Aplasia/Hypoplasia of the middle phalanges of the hand Absent phalangeal crease Type B brachydactyly Broad forehead Mandibular prognathia Low-set, posteriorly rotated ears Camptodactyly Cryptorchidism Nystagmus Broad thumb Midface retrusion Short distal phalanx of toe Wide nasal bridge Abnormal facial shape Scoliosis Hearing impairment Short stature Aplasia/Hypoplasia of the middle phalanges of the toes Proximal placement of thumb Hypertelorism Short foot Clinodactyly Shallow acetabular fossae Pes planus Finger clinodactyly Hip dysplasia Thrombocytopenia Proximal symphalangism Short distal phalanx of finger Hypermetropia Gastroesophageal reflux Nevus flammeus of the forehead Muscular hypotonia Recurrent infections Aplasia/hypoplasia of the humerus Hypospadias Aplasia/Hypoplasia of the ulna Thin upper lip vermilion Single transverse palmar crease Protruding ear Seizures Laryngomalacia Tapered finger Knee flexion contracture Dental crowding Microcephaly Sclerotic scapulae Cortically dense long tubular bones Fingernail dysplasia Constriction of peripheral visual field Hyperostosis Abnormal cranial nerve morphology Broad ribs Abnormal cortical bone morphology Abnormality of the nose Tibial torsion Craniofacial hyperostosis Diaphyseal thickening Facial palsy secondary to cranial hyperostosis Deviation of finger Esodeviation Broad clavicles Sclerotic vertebral endplates Trigeminal neuralgia 2-3 finger syndactyly Ankle contracture Curved distal phalanges of the hand Self-injurious behavior Sacral lipoma Pulmonary artery stenosis Genu varum Anosmia Aplasia of the uterus Fused cervical vertebrae Absent distal phalanges Patellar dislocation Absent radius Abnormality of coagulation Adducted thumb Hypoplastic sacrum Abnormality of the genitourinary system Coxa valga Horseshoe kidney Tetralogy of Fallot Abnormal cardiac septum morphology Abnormality of the kidney High forehead Cleft palate Fibular aplasia Delayed eruption of permanent teeth Severe postnatal growth retardation Hemivertebrae Branchial cyst Micrognathia Ventricular septal defect Micropenis Toe syndactyly Wide anterior fontanel Joint contracture of the hand Short long bone Hypoplastic fingernail Short middle phalanx of finger Cervical ribs Anonychia Delayed cranial suture closure Aplasia/Hypoplasia of the patella Vertebral fusion Thoracolumbar scoliosis Phocomelia Abnormality of pelvic girdle bone morphology Type II diabetes mellitus Increased intracranial pressure Talipes equinovarus Proximal/middle symphalangism of 5th finger Metacarpophalangeal synostosis Short toe Global developmental delay Pain Flexion contracture Delayed speech and language development Anteverted nares Elbow ankylosis Prominent forehead Hyperlordosis Genu valgum Talipes Thin vermilion border Bilateral sensorineural hearing impairment Lumbar hyperlordosis Rhizomelia Abnormal finger flexion creases Abnormality of the wrist Coxa vara Radial bowing Split hand Oligodactyly Aniridia Absent hand Pancytopenia Radioulnar synostosis Petechiae Aplastic anemia Elbow dislocation Ulnar bowing Congenital thrombocytopenia Amegakaryocytic thrombocytopenia Limited pronation/supination of forearm Proximal radio-ulnar synostosis Megakaryocytopenia Camptodactyly of finger Abnormality of the metacarpal bones Congenital hip dislocation Mild short stature Increased bone mineral density Visual loss Ptosis Cognitive impairment Depressed nasal bridge Optic atrophy Frontal bossing Malar flattening Headache Hyperactivity Displacement of the external urethral meatus Proptosis Facial palsy Paralysis Dental malocclusion Esotropia Nail dysplasia Overgrowth Tall stature Abnormality of the antitragus Congenital hepatic fibrosis Bilateral talipes equinovarus Ataxia Limited elbow extension Dislocated radial head Thoracic scoliosis Hypoplasia of the odontoid process Lower limb asymmetry Acetabular dysplasia Dislocation of the femoral head Intellectual disability Cataract Hand polydactyly Epicanthus Renal insufficiency Abnormality of cardiovascular system morphology Obesity Brachycephaly Iris coloboma Hypoplasia of penis Bilateral single transverse palmar creases Axial malrotation of the kidney



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