Brachytelephalangy: Causes & Reasons

Possible Causes for Brachytelephalangy

Hyperphosphatasia with Mental Retardation Type 2

Only one reported patient (patient 4 in 5 ) did not present with brachytelephalangy. [nature.com]

[…] retardation, various neurologic abnormalities such as seizures and hypotonia, hypoplastic or absent nails, long palpebral fissures, facial dysmorphism, and variable degrees of brachytelephalangy [iofbonehealth.org]

Definition An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase [uniprot.org]

Lymphedema Hypoparathyroidism Syndrome

Congenital lymphedema, hypoparathyroidism, nephropathy, progressive renal failure, mitral valve prolapse, brachytelephalangy, cataracts, broad nasal bridge, telecanthus. [accessanesthesiology.mhmedical.com]

[…] dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy [orpha.net]

Dahlberg PJ, Borer WZ, Newcomer KL, et al: Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve and brachytelephalangy [accessanesthesiology.mhmedical.com]

Bonnemann-Meinecke-Reich Syndrome

Brachymésophalangie members short mesomelic bones anomalies Standard Brachymésophalangie 2 Brachymésophalangie types 2 and 5 Brachymorphism onchodysplasy dysphalangism syndrome Brachyolmy Brachytelephalangie [wikipedia.qwika.com]

Brachymesophalangy type 2 Brachymetapody anodontia hypotrichosis albinoidism Brachymorphism onychodysplasia dysphalangism syndrome Brachyolmia recessive Hobaek type Brachyolmia Brachytelephalangy [bionity.com]

Brachytelephalangy characteristic facies Kallmann[?] Braddock Carey syndrome[?] Braddock Jones Superneau syndrome[?] Bradykinesia[?] Brain cavernous angioma[?] [encyclopedia.kids.net.au]

Chondrodysplasia Punctata

Postnatally, the infant was noted to have generalized CDP, rhizomelia and brachytelephalangy. He also had hearing loss, hypospadius and hypothyroidism. [ashg.org]

Other features include hypoplasia of the midface and of the nasal bone, short stature, brachytelephalangy, and ectopic calcifications. [ncbi.nlm.nih.gov]

In a male infant, the findings of CP, nasomaxillary dysplasia and brachytelephalangy suggest XRCP or so-called brachytelephalangic CP. 3 This diagnosis could be confirmed [nature.com]

Bencze Syndrome

Brachymesophalangy type 2 * Brachymetapody anodontia hypotrichosis albinoidism * Brachymorphism onychodysplasia dysphalangism syndrome * Brachyolmia recessive Hobaek type * Brachyolmia * Brachytelephalangy [en.academic.ru]

Familial Developmental Dysphasia

Brachytelephalangy characteristic facies Kallmann[?] Braddock Carey syndrome[?] Braddock Jones Superneau syndrome[?] Bradykinesia[?] Brain cavernous angioma[?] [encyclopedia.kids.net.au]

Autosomal Dominant Chondrodysplasia Punctata

In a male infant, the findings of CP, nasomaxillary dysplasia and brachytelephalangy suggest XRCP or so-called brachytelephalangic CP. 3 This diagnosis could be confirmed [nature.com]

Both stippling and brachytelephalangy have been reported after exposure to hydantoins [ Howe et al 1995 ]. [ncbi.nlm.nih.gov]

[…] present in 26–89 % od CDPX1 patients, as well as additional non prominent skeletal characteristics described by geneticist in our patient - mild midface hypoplasia and mild brachytelephalangy [molecularcytogenetics.biomedcentral.com]

Tracheal Calcification

"Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome". [en.wikipedia.org]

Fryns JP, van Fleteren A, Mattelaer P et al (1984) Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. [link.springer.com]

"Calcification of cartilages, brachytelephalangy, and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome". [en.wikipedia.org]

Bellini-Chiumello-Rinoldi Syndrome

Berk-Tabatznik Syndrome

Case Reports Congenital optic atrophy and brachytelephalangy: the Berk-Tabatznik syndrome E A Hartwell et al. Am J Med Genet. 1988 Feb. [pubmed.ncbi.nlm.nih.gov]

Sciences Home Browse by Disease Berk-Tabatznik Syndrome Berk-Tabatznik Syndrome Other Names: Cleft nare, brachydactyly, short stature dwarfism; Congenital optic atrophy and brachytelephalangy [rarediseases.info.nih.gov]

Optic Atrophy, and Hypoplasia of the Cervical Vertebral Bodies and Distal Phalanges 20 Cleft Nare, Brachydactyly, Short Stature Dwarfism 20 Congenital Optic Atrophy and Brachytelephalangy [malacards.org]

Tabatznik Syndrome

An extremely rare disorder of unknown cause, characterized by short stature, congenital optic atrophy, and brachytelephalangy. noun 0 0 Advertisement Origin of berk-tabatznik-syndrome [yourdictionary.com]

Congenital Optic Atrophy and Brachytelephalangy. Extremely rare; only two sporadic cases have been described. [accessanesthesiology.mhmedical.com]

Hyperphosphatasia with Mental Retardation Type 5

Composite showing (A), Brachytelephalangy in the right hand of Patient 2 withmissing or hypolastic nails; (B), radiograph of the right hand of Patient 3 showing brachytelephalangy [dev.docslide.net]

(a) Brachytelephalangy with missing and hypoplastic nails of fingers. (b) Hand radiograph showing hypoplastic distal phalanges. [iofbonehealth.org]

Hyperphosphatasia-mental retardation syndrome is a recently delineated disorder associated with a recognizable facial phenotype and brachytelephalangy. [ncbi.nlm.nih.gov]

Hyperphosphatasia with Mental Retardation

(a) Brachytelephalangy with missing and hypoplastic nails of fingers. (b) Hand radiograph showing hypoplastic distal phalanges. [iofbonehealth.org]

Only one reported patient (patient 4 in 5 ) did not present with brachytelephalangy. [nature.com]

Syndesmodysplasic Dwarfism

[…] form Dandy-walker malformation with mental retardation, basal ganglia disease, and seizures Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy [mindmappedia.com]

Keratoderma And Congenital Alopecia Bethlem Myopathy Blepharophimosis-Radioulnar Synostosis Syndrome Bowen-Conradi Syndrome Brachydactyly-Elbow Wrist Dysplasia Syndrome Brachytelephalangy-Dysmorphism-Kallmann [familydiagnosis.com]

Brachytelephalangic Chondrodysplasia Punctata

Miller SF: Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome. Pediatr Radiol 2003;33:186–189. [karger.com]

Other features include hypoplasia of the midface and of the nasal bone, short stature, brachytelephalangy, and ectopic calcifications. [ncbi.nlm.nih.gov]

Chondrodysplasia punctata (CP) with Binder anomaly was suspected. 3D-HCT revealed brachytelephalangy suggesting CDPX1. At birth, mid-face hypoplasia was marked. [karger.com]

Hyperphosphatasia with Mental Retardation Type 4

Only one reported patient (patient 4 in 5 ) did not present with brachytelephalangy. [nature.com]

Her hands and feet show bilateral brachytelephalangy including small nails. [databases.lovd.nl]

Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). [malacards.org]

Dincsoy-Salih-Patel Syndrome

[…] form * Dandy-walker malformation with mental retardation, basal ganglia disease, and seizures * Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy [enacademic.com]

Lethal Bone Dysplasia, Holmgren Type

Brachytelephalangy characteristic facies Kallmann[?] Braddock Carey syndrome[?] Braddock Jones Superneau syndrome[?] Bradykinesia[?] Brain cavernous angioma[?] [encyclopedia.kids.net.au]

Dupont Sellier Chochillon Syndrome

[…] hemangioma Dandy-Walker malformation with mental retardation basal ganglia disease and seizures Dandy-Walker malformation with mental retardation macrocephaly myopia and brachytelephalangy [personalizedcause.com]

Chondrodysplasia punctata Type Toriello

In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy [orpha.net]

Shortening of all distal phalanges of the fingers Brachytelephalangy, Shortening of all outermost bones of the fingers Hypoplasia of all of the distal phalanx of finger. [rarediseases.oscar.ncsu.edu]

Both stippling and brachytelephalangy have been reported after exposure to hydantoins [ Howe et al 1995 ]. [ncbi.nlm.nih.gov]

Hyperphosphatasia with Mental Retardation Type 3

Only one reported patient (patient 4 in 5 ) did not present with brachytelephalangy. [nature.com]

Her hands and feet show bilateral brachytelephalangy including small nails. [databases.lovd.nl]

Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by {4:Krawitz et al., 2010}). [diseaseinfosearch.org]

Dennis-Fairhurst-Moore Syndrome

Diphallus - Rachischisis - Imperforate Anus

Dyssegmental Dysplasia-Glaucoma Syndrome

Billet Bear Syndrome

Braddock-Carey Syndrome

[…] and brachytelephalangy. [wordaz.com]

6q25 Microdeletion Syndrome

Physical examination indicated dysmorphic features such as sparse hair, hirsutism, long philtrum, highly arched eyebrows, low set ears, brachytelephalangy of the fifth fingers [x-mol.com]

Dandy-Walker malformation, ID, macrocephaly, myopia and brachytelephalangy. 15q21.1-q21.2 Deletion. Clinical features similar to Marfan syndrome and with ID. [scielo.br]

[…] disturbances, ataxia, short stature, ID and dysmorphic features (brachycephaly, proximal implementation of the hair, short nose, hypertelorism, everted lower lip, thick tongue, brachytelephalangy [scielo.br]

Familial Isolated Hypoparathyroidism

Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy. [disorders.eyes.arizona.edu]

References Article Title: Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy [disorders.eyes.arizona.edu]

Davis-Lafer Syndrome

Dandy-Walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy OMIM:220219 ! [github.com]

Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy GARD:0002229 ! Faciocardiomelic dysplasia lethal OMIM:227270 ! [github.com]

Ben-Ari-Shuper-Mimouni Syndrome

Dandy-Walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy OMIM:220219 ! [github.com]

Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy GARD:0002229 ! Faciocardiomelic dysplasia lethal OMIM:227270 ! [github.com]