Autoimmunity, and Finger syndactyly

Diseases related with Autoimmunity and Finger syndactyly

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


Top matches:

Low match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

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

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Other less relevant 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 HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME


HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME Is also known as ostravik-lindemann-solberg syndrome

Related symptoms:

  • Hypertelorism
  • Cryptorchidism
  • Abnormality of the skeletal system
  • Syndactyly
  • Patent ductus arteriosus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY 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

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 ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Finger syndactyly

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

Patients with Autoimmunity and Finger syndactyly. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Split foot Alopecia Hypodontia Prominent nasal bridge Retrognathia Ectrodactyly Abnormality of the foot Foot oligodactyly Oligodactyly Hypertelorism Cutaneous syndactyly Scoliosis Postaxial polydactyly Postaxial hand polydactyly Cataract 3-4 finger syndactyly Abnormality of the dentition Hand oligodactyly Abnormality of earlobe Absent hand Dysplastic distal thumb phalanges with a central hole Brachydactyly 1-5 toe syndactyly Broad thumb Triphalangeal thumb Sensorineural hearing impairment Aniridia Wide nasal bridge Hearing impairment Intellectual disability Complete atrioventricular canal defect Pneumonia Coarctation of aorta Hand polydactyly Broad hallux Cutaneous finger syndactyly Subvalvular aortic stenosis Common atrium Cor triatriatum Hamartoma of tongue Duplication of phalanx of hallux Benign neoplasm of the central nervous system 2-3 finger syndactyly Clinodactyly Imperforate hymen Midface retrusion Hypotrichosis Clinodactyly of the 5th finger Absent nipple Melanocytic nevus Abnormality of dental morphology Freckling Hypoplastic nipples Alopecia of scalp Fair hair Generalized hypopigmentation Sparse axillary hair Breast hypoplasia Oligodontia Nasolacrimal duct obstruction Toenail dysplasia Fingernail dysplasia Lacrimal duct stenosis Nail pits Lacrimal duct atresia Conical incisor Premature loss of permanent teeth Dermal atrophy Conjunctivitis Hyperhidrosis Wide intermamillary distance Camptodactyly Nail dystrophy Patent ductus arteriosus Anal atresia Dry skin Oral cleft Ectodermal dysplasia Nail dysplasia Microdontia Finger clinodactyly Eczema Fine hair Cutaneous photosensitivity Sparse scalp hair Inflammatory abnormality of the skin Thin skin Abnormality of the face Skin ulcer Abnormality of the nail Abnormal heart morphology Epidermal nevus Abnormality of the skeletal system Congenital hip dislocation Renal agenesis Convex nasal ridge Abnormality of the ribs Renal hypoplasia Abnormal form of the vertebral bodies Abnormality of the genital system Short thumb Hemivertebrae Micromelia Narrow palate Abnormality of dental enamel Abnormal dermatoglyphics Renal hypoplasia/aplasia Abnormality of the metacarpal bones Laryngomalacia Hypoplasia of the radius Deep philtrum High, narrow palate Congenital cataract Radioulnar synostosis Downslanted palpebral fissures Nystagmus Micrognathia Abnormal facial shape Cleft palate Ptosis Low-set ears Depressed nasal bridge Frontal bossing Hip dislocation Short nose Malar flattening Prominent forehead Proptosis Hypothyroidism Deeply set eye Protruding ear Short philtrum Systemic lupus erythematosus Elbow dislocation Cryptorchidism Spina bifida occulta Papule Ichthyosis Nevus Epidermal acanthosis Abnormal vertebral morphology Abnormality of the hair Spina bifida Acne Microcephaly Hamartoma Pustule Nevus flammeus Comedo Tarsal synostosis Carpal synostosis Metacarpal synostosis Metatarsal synostosis Scarring Seizures Ectropion Absent fingernail Hypoplasia of the ulna Mixed hearing impairment Absent thumb Abnormality of digit Congenital hypothyroidism Synostosis of carpal bones Absent toenail Bilateral renal hypoplasia Abnormal erythrocyte morphology Crossed fused renal ectopia Synostosis of joints Anemia Thrombocytopenia Leukemia Hemolytic anemia Leukopenia Adermatoglyphia



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