Abnormality of the skeletal system, and Clinodactyly of the 5th finger

Diseases related with Abnormality of the skeletal system and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.


Top matches:

Low match MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE; MCPH24


Related symptoms:

  • Microcephaly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Cerebellar vermis hypoplasia
  • Finger clinodactyly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE; MCPH24

Low match BRACHYDACTYLY, TYPE A1, D; BDA1D


Related symptoms:

  • Delayed speech and language development
  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE A1, D; BDA1D

Low match SYNDACTYLY TYPE 5


Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

SYNDACTYLY TYPE 5 Is also known as sd5|postaxial syndactyly with metacarpal synostosis|syndactyly with metacarpal and metatarsal fusion

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Clinodactyly of the 5th finger
  • Camptodactyly of finger
  • Abnormality of the foot


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNDACTYLY TYPE 5

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Other less relevant matches:

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17


Glycosylphosphatidylinositol biosynthesis defect-17 is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17

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 HYPOPLASTIC TIBIAE-POSTAXIAL POLYDACTYLY SYNDROME


Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.

HYPOPLASTIC TIBIAE-POSTAXIAL POLYDACTYLY SYNDROME Is also known as werner mesomelic syndrome

Related symptoms:

  • Short stature
  • Clinodactyly of the 5th finger
  • Camptodactyly of finger
  • Finger syndactyly
  • Limitation of joint mobility


SOURCES: ORPHANET MENDELIAN

More info about HYPOPLASTIC TIBIAE-POSTAXIAL POLYDACTYLY SYNDROME

Low match BRACHYDACTYLY TYPE A2


Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.

BRACHYDACTYLY TYPE A2 Is also known as brachydactyly, mohr-wriedt type|brachymesophalangy ii|mohr-wriedt type brachydactyly

Related symptoms:

  • Short stature
  • Brachydactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Short foot


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BRACHYDACTYLY TYPE A2

Low match CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME


Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).

CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME Is also known as luteinizing hormone-releasing hormone deficiency with ataxia|gordon-holmes syndrome

Related symptoms:

  • Short stature
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME

Low match BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME


Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.

BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME Is also known as brachydactyly-joint dysplasia syndrome|liebenberg syndrome|brachydactyly with joint dysplasia|synostosis, carpal, with dysplastic elbow joints and brachydactyly

Related symptoms:

  • Brachydactyly
  • Macrocephaly
  • Talipes equinovarus
  • Clinodactyly of the 5th finger
  • Camptodactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRACHYDACTYLY-ELBOW WRIST DYSPLASIA 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

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Brachydactyly Uncommon - Between 30% and 50% cases
Clinodactyly Uncommon - Between 30% and 50% cases
Finger clinodactyly Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Finger syndactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Camptodactyly of finger

Rare Symptoms - Less than 30% cases


Microcephaly Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Carpal synostosis Cutaneous finger syndactyly 2-3 toe syndactyly Elbow dislocation Synostosis of carpal bones Short 2nd finger Short middle phalanx of the 5th finger Sensorineural hearing impairment Nystagmus Hypogonadism Dementia Behavioral abnormality Neurological speech impairment Optic atrophy Abnormality of retinal pigmentation Muscular hypotonia Gynecomastia Brachycephaly Medially deviated second toe Ataxia Bracket epiphysis of the middle phalanx of the 5th finger Bracket epiphysis of the middle phalanx of the 2nd finger Triangular shaped middle phalanx of the 5th finger Abnormal electroretinogram Type A2 brachydactyly Triangular shaped middle phalanx of the 2nd finger Short 2nd metacarpal Aplasia/Hypoplasia of the middle phalanx of the 5th finger Aplasia/Hypoplasia of the middle phalanges of the toes Radial deviation of the 2nd finger Ulnar deviation of the 2nd finger Short 1st metacarpal Short hallux Hallux valgus Hypogonadotrophic hypogonadism Talipes equinovarus Personality changes Joint contracture of the 5th finger Proximal/middle symphalangism of 5th finger Abnormal finger flexion creases Proximal symphalangism Elbow ankylosis Abnormality of the wrist Tarsal synostosis Abnormality of the metacarpal bones Pes planus Strabismus Radially deviated wrists Long metacarpals 2-3 finger syndactyly Abnormality of the distal phalanx of finger Abnormality of the carpal bones Hemiplegia/hemiparesis Abnormality of the humerus Ridged nail Abnormality of the ulna Aplasia/Hypoplasia of the radius Metaphyseal widening Abnormality of the fingernails Elbow flexion contracture Joint stiffness Camptodactyly Short middle phalanx of finger Macrocephaly Abnormality of the hypothalamus-pituitary axis Decreased fertility Supernumerary nipple Broad hallux Preaxial hand polydactyly Short foot 3-4 finger syndactyly High palate Growth delay Generalized hypotonia Global developmental delay Seizures Deviation of toes Enlarged proximal interphalangeal joints Fused fourth and fifth metacarpals Metatarsal synostosis 3-4 toe syndactyly Absent distal interphalangeal creases 4-5 toe syndactyly Metacarpal synostosis Ulnar deviation of finger Aggressive behavior Joint contracture of the hand Interphalangeal joint contracture of finger Short distal phalanx of finger Abnormality of the foot Short distal phalanx of the 2nd finger Short proximal phalanx of thumb Poor motor coordination Short distal phalanx of the thumb Short proximal phalanx of finger Arachnodactyly Delayed speech and language development Congenital microcephaly Cerebellar vermis hypoplasia Autism Hirsutism Fibular duplication Congenital thrombocytopenia Increased fibular diameter Abnormality of fibula morphology Depressed nasal tip Short tibia Aplasia/Hypoplasia of the thumb Triphalangeal thumb Bowing of the long bones Postaxial hand polydactyly Limitation of joint mobility Megakaryocytopenia Proximal radio-ulnar synostosis Limited pronation/supination of forearm Amegakaryocytic thrombocytopenia Shallow acetabular fossae Generalized myoclonic seizures Ulnar bowing Aplastic anemia Radial bowing Petechiae Radioulnar synostosis Pancytopenia Hip dysplasia Hip dislocation Thrombocytopenia Dysplastic corpus callosum Incoordination Hypertriglyceridemia Febrile seizures Metacarpophalangeal synostosis



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