Abnormality of the skeletal system, and Finger syndactyly

Diseases related with Abnormality of the skeletal system and Finger syndactyly

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


Top matches:

Low match SYNPOLYDACTYLY TYPE 2


SYNPOLYDACTYLY TYPE 2 Is also known as spd2|spd, debeer type|sd2, debeer type|synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses|sd2b|synpolydactyly, debeer type

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Toe syndactyly
  • Tarsal synostosis
  • Carpal synostosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNPOLYDACTYLY TYPE 2

Low match NEVUS COMEDONICUS SYNDROME


Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

Related symptoms:

  • Seizures
  • Microcephaly
  • Scoliosis
  • Cataract
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEVUS COMEDONICUS SYNDROME

Low match SPLIT-HAND/FOOT MALFORMATION 6; SHFM6


Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006).For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 (OMIM ).

SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 Is also known as ectrodactyly, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Syndactyly
  • Finger syndactyly
  • Toe syndactyly
  • Split hand


SOURCES: OMIM MENDELIAN

More info about SPLIT-HAND/FOOT MALFORMATION 6; SHFM6

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Other less relevant matches:

Low match POLYSYNDACTYLY


Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.

POLYSYNDACTYLY Is also known as preaxial polydactyly type 4|polysyndactyly, uncomplicated|ppd4

Related symptoms:

  • Preaxial polydactyly
  • Abnormality of earlobe
  • 3-4 finger syndactyly
  • Dysplastic distal thumb phalanges with a central hole
  • 1-5 toe syndactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYSYNDACTYLY

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 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 SYNDACTYLY TYPE 4


Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).

SYNDACTYLY TYPE 4 Is also known as sd4|haas type syndactyly|polysyndactyly, haas type

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Camptodactyly of finger
  • Toe syndactyly
  • Postaxial polydactyly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNDACTYLY TYPE 4

Low match ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME


Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME Is also known as edss|edss1

Related symptoms:

  • Cognitive impairment
  • Syndactyly
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME

Low match SYNDACTYLY TYPE 3


Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.

SYNDACTYLY TYPE 3 Is also known as ring and little finger syndactyly|sdty3|syndactyly of fingers 4 and 5|syndactyly of fingers iv and v|sd3

Related symptoms:

  • Hypertelorism
  • Abnormality of the dentition
  • Syndactyly
  • Clinodactyly
  • Camptodactyly of finger


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SYNDACTYLY TYPE 3

Low match BRACHYDACTYLY TYPE B


Brachydactyly type B (BDB) is a very rare congenital malformation characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails.

Related symptoms:

  • Finger syndactyly
  • Short distal phalanx of finger
  • Short foot
  • Short metacarpal
  • Synostosis of carpal bones


SOURCES: ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE B

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Finger syndactyly

Symptoms // Phenotype % cases
Syndactyly Common - Between 50% and 80% cases
Toe syndactyly Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Preaxial polydactyly Uncommon - Between 30% and 50% cases
Cutaneous syndactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Finger syndactyly. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Split hand Interphalangeal joint contracture of finger Alopecia Camptodactyly of finger Abnormality of the foot Epidermal acanthosis Postaxial polydactyly Abnormality of the hair Triphalangeal thumb Palmoplantar keratoderma Coarse hair Heat intolerance Cutaneous finger syndactyly Aplasia/Hypoplasia of the eyebrow Absent eyebrow Hypoplastic toenails Sparse eyelashes Hyperhidrosis Widely spaced teeth Ectodermal dysplasia Sparse and thin eyebrow Conical tooth Sparse scalp hair Hyperkeratosis Small nail Hypotrichosis Hypoplasia of dental enamel Patchy alopecia Pili torti Abnormality of limb bone morphology Type B brachydactyly Absent fingernail Symphalangism affecting the phalanges of the hand Broad hallux phalanx Synostosis of carpal bones Short metacarpal Short foot Short distal phalanx of finger Absent middle phalanx of 5th finger 4-5 finger syndactyly Short 5th finger Ridged nail Short toe Clinodactyly Abnormality of the dentition Hypertelorism 2-3 toe cutaneous syndactyly Epidermal hyperkeratosis Absent facial hair Palmar hyperkeratosis 1-5 finger complete cutaneous syndactyly Hypoplasia of teeth Cognitive impairment Hand polydactyly 1-5 finger syndactyly Ichthyosis Nevus flammeus Pustule Hamartoma Acne Spina bifida occulta Spina bifida Abnormal vertebral morphology Nevus Papule Comedo Scarring Cataract Scoliosis Microcephaly Seizures Metatarsal synostosis Metacarpal synostosis Carpal synostosis Tarsal synostosis Epidermal nevus Intellectual disability Supernumerary metacarpal bones Oligodactyly 6 metacarpals Cutaneous syndactyly of toes Short tibia Foot polydactyly 2-3 toe syndactyly Limitation of joint mobility Absent hand Aniridia Sensorineural hearing impairment Ectrodactyly Broad thumb Postaxial hand polydactyly 1-5 toe syndactyly Dysplastic distal thumb phalanges with a central hole 3-4 finger syndactyly Abnormality of earlobe Foot oligodactyly Hand oligodactyly Split foot 2nd-5th toe middle phalangeal hypoplasia



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