Abnormality of the skeletal system, and Postaxial hand polydactyly

Diseases related with Abnormality of the skeletal system and Postaxial hand polydactyly

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Postaxial hand polydactyly that can help you solving undiagnosed cases.


Top matches:

Low match POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6


Related symptoms:

  • Abnormal facial shape
  • Hyperhidrosis
  • Postaxial hand polydactyly
  • Broad phalanges of the 5th finger


SOURCES: OMIM MENDELIAN

More info about POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6

Low match POSTAXIAL POLYDACTYLY TYPE A


Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial PolydactylyOther forms of postaxial polydactyly type A include PAPA2 (OMIM ) on chromosome 13q21; PAPA3 (OMIM ) on chromosome 19p13; PAPA4 (OMIM ) on chromosome 7q22; PAPA5 (OMIM ) on chromosome 13q13; PAPA6 (OMIM ), caused by mutation in the ZNF141 gene (OMIM ) on chromosome 4p16; PAPA7 (OMIM ), caused by mutation in the IQCE gene (OMIM ) on chromosome 7p22; and PAPA8 (OMIM ), caused by mutation in the GLI1 gene (OMIM ) on chromosome 12q13.

POSTAXIAL POLYDACTYLY TYPE A Is also known as postaxial polydactyly, type a|papa|polydactyly, postaxial

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Abnormality of the foot
  • Postaxial polydactyly
  • Postaxial hand polydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY TYPE A

Low match BARDET-BIEDL SYNDROME 7; BBS7


BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%.For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 7; BBS7

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Other less relevant matches:

Low match GUTTMACHER SYNDROME


Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.

GUTTMACHER SYNDROME Is also known as guttmacher syndrome|preaxial deficiency-postaxial polydactyly-hypospadias syndrome

Related symptoms:

  • Hypospadias
  • Polydactyly
  • Postaxial polydactyly
  • Postaxial hand polydactyly
  • Glandular hypospadias


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GUTTMACHER SYNDROME

Low match MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3


This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by Mirzaa et al., 2014).For a discussion of genetic heterogeneity of MPPH, see MPPH1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Macrocephaly
  • Ventriculomegaly
  • Hydrocephalus
  • Absent speech


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3

Low match POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8


Postaxial polydactyly type 8A is characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails (Palencia-Campos et al., 2017).For a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.

Related symptoms:

  • Short stature
  • Atrial septal defect
  • Polydactyly
  • Genu valgum
  • Postaxial polydactyly


SOURCES: OMIM MENDELIAN

More info about POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8

Low match POLYDACTYLY, PREAXIAL II; PPD2


POLYDACTYLY, PREAXIAL II; PPD2 Is also known as triphalangeal thumb-polydactyly syndrome|polydactyly of triphalangeal thumb

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Postaxial polydactyly
  • Postaxial hand polydactyly
  • Cutaneous syndactyly


SOURCES: OMIM MENDELIAN

More info about POLYDACTYLY, PREAXIAL II; PPD2

Low match MECKEL SYNDROME, TYPE 3; MKS3


Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 3; MKS3 Is also known as meckel-gruber syndrome, type 3

Related symptoms:

  • Cleft palate
  • Hydrocephalus
  • Polydactyly
  • Postaxial polydactyly
  • Renal cyst


SOURCES: OMIM ORPHANET MENDELIAN

More info about MECKEL SYNDROME, TYPE 3; MKS3

Low match JOUBERT SYNDROME 22; JBTS22


Related symptoms:

  • Global developmental delay
  • Growth delay
  • Abnormal facial shape
  • Intrauterine growth retardation
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 22; JBTS22

Low match MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2


MPPH2 is an overgrowth syndrome comprising megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP ) (summary by Gripp et al., 2009).For a discussion of genetic heterogeneity of MPPH, see {603387}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Macrocephaly
  • Ventriculomegaly
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Postaxial hand polydactyly

Symptoms // Phenotype % cases
Polydactyly Very Common - Between 80% and 100% cases
Postaxial polydactyly Common - Between 50% and 80% cases
Syndactyly Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Abnormal facial shape Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Postaxial hand polydactyly. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Macrocephaly Postaxial foot polydactyly Megalencephaly Polymicrogyria Ventriculomegaly Global developmental delay Triphalangeal thumb Intellectual disability Preaxial polydactyly Overgrowth Growth delay Capillary malformation Cleft palate Renal cyst Dandy-Walker malformation Encephalocele Hepatic fibrosis Multicystic kidney dysplasia Occipital encephalocele Bile duct proliferation Cystic renal dysplasia Hyperextensible skin Intrauterine growth retardation Cutis marmorata Hypoplasia of the corpus callosum Microphthalmia Coloboma 6 metacarpals Renal hypoplasia Molar tooth sign on MRI Foot polydactyly Retinal dysplasia Undetectable electroretinogram Seizures Opposable triphalangeal thumb Bilateral postaxial polydactyly Complete duplication of distal phalanx of the thumb Absent speech Broad phalanges of the 5th finger Abnormality of the foot Broad thumb Obesity Rod-cone dystrophy Hypogonadism Abnormality of the kidney External genital hypoplasia Hypospadias Glandular hypospadias Short 2nd toe Prominent forehead Duplication of phalanx of hallux Perisylvian polymicrogyria Frontoparietal polymicrogyria Thick corpus callosum Short stature Atrial septal defect Genu valgum Nail dysplasia Hyperhidrosis Cutaneous syndactyly Abnormality of the hand Preaxial hand polydactyly Preaxial foot polydactyly Hemimegalencephaly



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