Hearing impairment, and Short metacarpal

Diseases related with Hearing impairment and Short metacarpal

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


Top matches:

Low match TARSAL-CARPAL COALITION SYNDROME


Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Brachydactyly
  • Clinodactyly
  • Abnormality of the hand


SOURCES: ORPHANET OMIM MENDELIAN

More info about TARSAL-CARPAL COALITION SYNDROME

Low match SYMPHALANGISM, PROXIMAL, 1A; SYM1A


Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness (Strasburger et al., 1965). Genetic Heterogeneity of Proximal SymphalangismAnother form of proximal symphalangism (SYM1B ) is caused by mutation in the GDF5 gene (OMIM ).

SYMPHALANGISM, PROXIMAL, 1A; SYM1A Is also known as cushing symphalangism|sym1|hereditary absence of the proximal interphalangeal joints

Related symptoms:

  • Short stature
  • Hearing impairment
  • Brachydactyly
  • Conductive hearing impairment
  • Abnormality of the hand


SOURCES: OMIM MENDELIAN

More info about SYMPHALANGISM, PROXIMAL, 1A; SYM1A

Low match CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE


Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.

CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE Is also known as gpapp deficiency

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE

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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 LERI-WEILL DYSCHONDROSTEOSIS; LWD


Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in estrogen levels. However, pubertal development and fertility are generally normal in both sexes with the disorder (summary by Ross et al., 2005). The Madelung wrist deformity includes deformity of the distal radius and ulna and proximal carpal bones (Langer, 1965).See also Langer mesomelic dysplasia (LMD ), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes.

LERI-WEILL DYSCHONDROSTEOSIS; LWD Is also known as dyschondrosteosis|dco

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • High palate
  • Severe short stature


SOURCES: OMIM MENDELIAN

More info about LERI-WEILL DYSCHONDROSTEOSIS; LWD

Low match CZECH DYSPLASIA, METATARSAL TYPE


Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.

CZECH DYSPLASIA, METATARSAL TYPE Is also known as pseudorheumatoid dysplasia, progressive, with hypoplastic toes|spondyloepiphyseal dysplasia with precocious osteoarthritis|czech dysplasia, metatarsal type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CZECH DYSPLASIA, METATARSAL TYPE

Low match TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME


Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.

TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME Is also known as preaxial brachydactyly syndrome, temtamy type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

Low match PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Low match SPONDYLOPERIPHERAL DYSPLASIA-SHORT ULNA SYNDROME


Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.

SPONDYLOPERIPHERAL DYSPLASIA-SHORT ULNA SYNDROME Is also known as spondyloperipheral dysplasia with short ulna

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Brachydactyly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOPERIPHERAL DYSPLASIA-SHORT ULNA SYNDROME

Low match IVIC SYNDROME


IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.

IVIC SYNDROME Is also known as oculo-oto-radial syndrome|oculootoradial syndrome|oors|radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Strabismus
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IVIC SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Short metacarpal

Symptoms // Phenotype % cases
Brachydactyly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Carpal synostosis Common - Between 50% and 80% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Short toe Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hearing impairment and Short metacarpal. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Skeletal dysplasia Tarsal synostosis Growth delay Proximal symphalangism of hands Intellectual disability Short metatarsal Short foot Cleft palate Scoliosis Proximal symphalangism Synostosis of carpal bones Abnormality of the hand Distal symphalangism of hands Short 1st metacarpal

Rare Symptoms - Less than 30% cases


Hypoplasia of the radius Syndactyly Short distal phalanx of finger Radioulnar synostosis Severe short stature Arthralgia Short thumb Limited elbow movement Hypoplasia of the ulna Limited wrist movement Flexion contracture Platyspondyly Limitation of joint mobility Spondyloepiphyseal dysplasia Arrhythmia Flat capital femoral epiphysis Clinodactyly Ankylosis Rhizomelia Short 5th metacarpal Synostosis of carpals/tarsals Aplasia/Hypoplasia of the middle phalanges of the hand Abnormality of digit Conductive hearing impairment Abnormal facial shape Micrognathia Aplasia/Hypoplasia of the middle phalanges of the toes Anosmia Sensorimotor neuropathy Progressive visual loss Autistic behavior Hammertoe Polyneuropathy Ichthyosis Congenital cataract Bundle branch block Distal lower limb amyotrophy Nyctalopia Calcific stippling Retinopathy Polyneuritis Intestinal malrotation Rod-cone dystrophy Autism Cognitive impairment Diastema Hitchhiker thumb Talon cusp Seizures Global developmental delay Ataxia Cataract Peripheral neuropathy Elevated levels of phytanic acid Rectovaginal fistula Cardiomyopathy Blindness Congestive heart failure Visual loss Pes cavus Absent thumb Pectoralis major hypoplasia Right bundle branch block Talipes equinovarus Myopia Short distal phalanx of the 3rd finger Short distal phalanx of the 5th finger Type E brachydactyly Acetabular spurs Abnormality of vertebral epiphysis morphology Short distal phalanx of the 2nd finger Shortening of all proximal phalanges of the fingers Pugilistic facies Short distal phalanx of the 4th finger Flat acetabular roof Abnormal dermatoglyphics Absent styloid process of ulna Strabismus External ophthalmoplegia Small thenar eminence Thrombocytopenia Joint stiffness Anal atresia Shortening of all middle phalanges of the fingers Barrel-shaped chest Ectodermal dysplasia Abnormality of pelvic girdle bone morphology Kyphosis Malar flattening Midface retrusion Pectus carinatum Micromelia Abnormality of the metaphysis Carpal bone hypoplasia Broad thumb Aplastic clavicle Cone-shaped epiphyses of the phalanges of the hand Epiphyseal dysplasia Cone-shaped epiphysis Limited elbow extension Leukocytosis Limited interphalangeal movement Preaxial hand polydactyly Broad palm Triphalangeal thumb Short hallux Growth abnormality Deep philtrum Aplasia/Hypoplasia of the nails Cutaneous syndactyly Proximal placement of thumb Cutaneous finger syndactyly Symphalangism affecting the phalanges of the hand Cutaneous syndactyly of toes Absent fingernail Aplasia/Hypoplasia of the distal phalanges of the toes Aplasia/Hypoplasia of the distal phalanges of the hand Finger syndactyly Distal symphalangism Type B brachydactyly Short distal phalanx of toe Absent phalangeal crease High palate High, narrow palate Limb undergrowth Tall stature Hypermetropia Coronal craniosynostosis Disproportionate short-limb short stature Stapes ankylosis Cubitus valgus Radial deviation of finger Short finger Humeroradial synostosis Abnormality of the ankles Progressive fusion 2nd-5th pip joints Dislocated radial head Metacarpophalangeal synostosis Patellar dislocation Wide nasal bridge Short nose Narrow mouth Proptosis High forehead Genu valgum Flat face Joint dislocation Coxa valga Skeletal muscle hypertrophy Blue sclerae Intervertebral space narrowing Coxa vara Short femoral neck Abnormal joint morphology Arthropathy Irregular vertebral endplates Thoracic kyphosis Narrow iliac wings Periarticular calcification Waddling gait Narrow femoral neck Optic atrophy Abnormality of the dentition Synophrys Highly arched eyebrow Hypodontia Microdontia Bilateral sensorineural hearing impairment Osteoarthritis Arthritis Mesomelia Madelung deformity Tibial bowing Gonadal dysgenesis Fibular hypoplasia Upper limb undergrowth Short tibia Radial bowing Short 4th metacarpal Abnormality of the humerus Abnormality of the carpal bones Abnormality of the skeletal system Multiple exostoses Mesomelic short stature Long fibula Shortening of the tibia Abnormal metatarsal morphology Dorsal subluxation of ulna Increased carrying angle Pain Hypoplasia of deltoid muscle



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