Abnormality of Digit: Causes & Reasons

Warning: Do not use in emergencies, if pregnant, if under 18, or as a substitute for a doctor’s advice or diagnosis. Learn more

Possible Causes for Abnormality of Digit

Phlegmon

A phlegmon is a localized area of acute inflammation of the soft tissues. It is a descriptive term which may be used for inflammation related to a bacterial infection or non-infectious causes (e.g. pancreatitis). Most commonly, it is used in contradistinction to a "walled-off" pus-filled collection (abscess), although a[…] [en.wikipedia.org]

Gorlin-Psaume Syndrome

Originals 31 Downloads 11 Citations Abstract This is a report of three cases of the oralfacial-digital (OFD) syndrome with accompanying severe cerebral abnormalities. [link.springer.com]

[…] fifth digits|Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (disorder)|Pfeiffer syndrome|Pfeiffer-type acrocephalosyndactyly|Pierre Robin association [averbis.com]

[…] dentition) *Digits (brachydactyly, clinodactyly, syndactyly, polydactyly) In addition cysts in liver, pancreas and central nervous system anomalies such as agenesis of corpus [eurorad.org]

Mohr Syndrome

Three other cases of the Mohr syndrome with cerebellar abnormalities are cited from the literature. [ncbi.nlm.nih.gov]

[…] oral cavity, laryngeal structures, trachea, and digits, muscular-skeletal abnormalities, and congenital cardiac defects. [uthsc.pure.elsevier.com]

Furthermore, the digital abnormalities include pre- and post-axial polydactyly of the hands and feet, partial bilateral duplication of the hallux, syndactyly, clinodactyly [symptoma.com]

Polydactyly of a Biphalangeal Thumb

[…] appendicular skeleton morphology Abnormality of limb bone morphology Abnormality of digit Abnormality of finger Abnormality of the thumb Preaxial hand polydactyly Polydactyly [ncbi.nlm.nih.gov]

abnormality. [ingentaconnect.com]

Overview of Hand/Foot Abnormalities [ edit ] Presence of more than normal number of fingers or toes Can vary from rudimentary finger or toe to fully developed extra digits [en.wikibooks.org]

Brachydactyly of Fingers

Learn about this topic in these articles: digit malformation In digit malformation Brachydactyly, or abnormally short digits, may result from underdevelopment or absence of [britannica.com]

Definition abnormally short digits Synonyms short toes short toes short fingers short fingers short digits Show more Related Synonyms Brachydactyly Brachydactyly Brachytelomesophalangy [mousephenotype.org]

[…] congenital syndrome. brachydactyly abnormal shortness of the digits. [medical-dictionary.thefreedictionary.com]

Acrocallosal Syndrome

Typical characteristics of ACLS are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital [ncbi.nlm.nih.gov]

distinctive digital malformations and growth retardation. [medigoo.com]

The characteristic features of this syndrome are craniofacial abnormalities, distinctive digital malformation, mental retardation. [jisppd.com]

Partial Trisomy 17p

Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. [ncbi.nlm.nih.gov]

[…] growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. [orpha.net]

[…] delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. [ncbi.nlm.nih.gov]

Akaba-Hayasaka Syndrome

digits and nails Aplastic anemia Aplastic crisis Apo A-I deficiency Apolipoprotein C-II deficiency Apparent mineralocorticoid excess Appelt–Gerken–Lenz syndrome Appendicitis [en.wikipedia.org]

[…] lymphangiectasia Aplasia cutis congenita of limbs recessive Aplasia cutis congenita recessive Aplasia cutis myopia Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal [en.wikipedia.org]

Trisomy 3

occurring less often are abnormalities of vertebrae, thorax, and digits, or cardiovascular, urinogenital, and central nervous system. [ncbi.nlm.nih.gov]

In some affected individuals, treatment may include surgical repair of certain craniofacial, digital, ocular, cardiac, or other abnormalities potentially associated with the [rarediseases.org]

[…] hirsutism and characteristic facial dysmorphism, the common features of which are a square-shaped face, prominent nasal bridge, everted nostrils, hypertelorism, and palate abnormalities [ncbi.nlm.nih.gov]

15q24 Deletion Syndrome

and short digits (brachydactyly). [my46.org]

abnormalities, loose connective tissue, and genital malformations in males. [insights.ovid.com]

abnormalities, variable more Head And Neck Nose: depressed nasal bridge broad nasal bridge high nasal bridge flaring of nasal alae wide, short nose Genitourinary External [malacards.org]

Oral-Facial-Digital Syndrome Type 6

The oral-facial-digital syndromes are a group of heterogeneous genetic disorders having in common facial anomalies, oral abnormalities, and digital malformations. [cags.org.ae]

Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. [ghr.nlm.nih.gov]

These include abnormally shaped forelimbs (postaxial digit and digit fusion) and absent cerebellum, colliculi, and third and fourth cranial nerves in the midbrain. [cags.org.ae]

Orofaciodigital Syndrome

Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. [ghr.nlm.nih.gov]

abnormalities that lead to the delineation of various subtypes. [uniprot.org]

Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums. [ghr.nlm.nih.gov]

Spranger-Schinzel-Myers Syndrome

Overview Spranger-Schinzel-Myers syndrome: A very rare syndrome characterized by brain malformation, underdeveloped fingers and bone abnormalities. [checkorphan.org]

Symptoms - Spranger Schinzel Myers syndrome * Underdeveloped digits * Small head * Hydrocephaly * Arthrogryposis * Underdeveloped lowest portion of spine (sacrum) * Permanent [checkorphan.org]

Ulnar Mammary Syndrome

Affected infants may have additional finger (digital) abnormalities with or without ulnar, radial, and/or digital malformations on the other side of the body (contralateral [rarediseases.org]

While most patients have limb deficiencies, the range of abnormalities extends from hypoplasia of the terminal phalanx of the 5th digit to complete absence of the ulna and [ncbi.nlm.nih.gov]

[…] ear, teeth, digits, skeletal and/or genitourinary tract. [pediatrics.uci.edu]

Joubert Syndrome Type 10

Nephronophthisis might be present; 6) Oro-facio-digital syndrome VI: primary criteria plus orofacial abnormality (cleft lip/palate, notched upper lip, tongue tumors, multiple [scielo.br]

[…] cerebellar vermis hypoplasia/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis): primary criteria, mental retardation, liver disorder (fibrosis or histological abnormalities [scielo.br]

Joubert Syndrome Type 5

Nephronophthisis might be present; 6) Oro-facio-digital syndrome VI: primary criteria plus orofacial abnormality (cleft lip/palate, notched upper lip, tongue tumors, multiple [scielo.br]

Uncombable Hair Syndrome Type 2

Several conditions are associated with uncombable hair, such as ectodermal dysplasia, retinal dysplasia/pigmentary dystrophy, juvenile cataract, digit abnormalities, tooth [pubmed.ncbi.nlm.nih.gov]

Uncombable Hair Syndrome 3

Brachydactyly

Learn about this topic in these articles: digit malformation In digit malformation Brachydactyly, or abnormally short digits, may result from underdevelopment or absence of [britannica.com]

[…] brachy·dac·ty·lous | \ ˌbrak-i-ˈdak-tə-ləs \ Medical Definition of brachydactylous : having abnormally short digits Other Words from brachydactylous brachydactyly \ -lē \ [merriam-webster.com]

Ostravik-Lindemann-Solberg Syndrome

[…] tissue Abnormality of digit Tracheomalacia Short columella Prenatal maternal abnormality Dysphagia Ascending aortic dissection Parietal bossing Bronchospasm Abdominal aortic [mendelian.co]

[…] syndrome type 6 [↗] Oral-facial-digital syndrome type 7 [↗] Oral-facial-digital syndrome type 8 [↗] Oral-facial-digital syndrome type 9 [↗] Oral-facial-digital syndrome with [wikicure.fandom.com]

[…] syndrome with retinal abnormalities - See Orofaciodigital syndrome 9 Oral-facial-digital syndrome with skeletal anomalies - See Orofaciodigital syndrome 11 Oral-facial-digital [herenciageneticayenfermedad.blogspot.com]

Char Syndrome

[…] and Abnormal Fifth Digits Char CHAR SYNDROME edit Language Label Description Also known as English Char syndrome patent ductus arteriosus with facial dysmorphism and abnormal [wikidata.org]

[…] ductus arteriosus with Facial Dysmorphism and abnormal fifth digits Annotation Sufficiency: ? [monarchinitiative.org]

Summary Literature (0) DOID:0060563 - Char syndrome Disease Ontology Definition: A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. [xenbase.org]

Joubert Syndrome Type 16

Oral-facial-digital syndrome (OFD) describes a heterogeneous group of disorders characterized by facial features, oral abnormalities and digital anomalies such as polydactyly [centogene.com]

Meckel Syndrome Type 11

Oral-facial-digital syndrome describes a heterogeneous group of disorders characterized by facial features, oral abnormalities, and digital anomalies such as polydactyly. [centogene.com]

ARL13B, CC2D2A, CEP290, CSPP1, EXOC8, GLI3, INPP5E, MKS1, NEK8, NPHP1/3, OFD1 and others Hypotonia, ataxia, psychomotor delay, oculomotor apraxia, macrocephaly, facial abnormalities [centogene.com]

Senior–Løken syndrome (SLS) CEP290, NPHP1-4, QCB1, SDCCAG8 Retinitis pigmentosa and renal disease Orofaciodigital syndrome (OFD) OFD1 Malformations of oral cavity, face, digits [centogene.com]

Brachydactyly Type A4

Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. [rarediseases.info.nih.gov]

Adams-Oliver Syndrome Type 1

This can include nail abnormalities, fusion of digits (syndactyly) or short digits (brachydactyly) or missing digits (oligodactyly) Cutis marmorata telangiectatica congenita [dermnetnz.org]

Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). [uniprot.org]

Some affected infants may have abnormally short fingers and/or toes (digits) due to underdevelopment (hypoplasia) or absence of certain bones in the hands and/or feet (metacarpals [rarediseases.org]

Orofaciodigital Syndrome Type 7

Abnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. [ghr.nlm.nih.gov]

Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums. [medlineplus.gov]

1 Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). ( 27530628 ) 2016 2 Distinctive Skeletal Abnormalities With [malacards.org]

Joubert Syndrome

Oral-facial-digital syndrome (OFD) describes a heterogeneous group of disorders characterized by facial features, oral abnormalities and digital anomalies such as polydactyly [centogene.com]

Distal Arthrogryposis Type 2B2

His hands showed severe camptodactyly, overlapping fingers with abnormal digital flexion creases, ulnar deviation of fingers, absent creases, and adducted thumbs. [findzebra.com]

Clinodactyly MedGen UID: 1644094 •Concept ID: C4551485 • Congenital Abnormality An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole [ncbi.nlm.nih.gov]

Preaxial Hallucal Polydactyly

The characteristic features of this syndrome are craniofacial abnormalities, distinctive digital malformation, mental retardation. [jisppd.com]

distinctive digital malformations and growth retardation. [jemds.com]

distinctive digital malformations and growth retardation. [1] ACS is also known by its synonyms: Schinzel Acrocallosal syndrome and Hallux duplication, Post axial polydactyly [jisppd.com]

Leber Congenital Amaurosis Type 5

[…] oculo-digital sign ... is characteristic of Leber congenital amaurosis. [ncbi.nlm.nih.gov]

A specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. [medlineplus.gov]

Additionally, the clear front covering of the eye (the cornea) may be cone-shaped and abnormally thin, a condition known as keratoconus.A specific behavior called Franceschetti's [ncbi.nlm.nih.gov]