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414 Possible Causes for Brachytelephalangy, Profound Psychomotor Developmental Delay

  • Hyperphosphatasia with Mental Retardation Syndrome 2

    Definition An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase[uniprot.org] Three siblings in a consanguineous Pakistani family presented with profound developmental delay, severe ID, no speech , psychomotor delay, and postnatal microcephaly .[pesquisa.bvsalud.org] […] 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]

  • Mental Retardation

    Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of intellectual disability characterized by facial dysmorphism, seizures, brachytelephalangy[ncbi.nlm.nih.gov] Three siblings in a consanguineous Pakistani family presented with profound developmental delay, severe ID, no speech, psychomotor delay, and postnatal microcephaly.[ncbi.nlm.nih.gov]

  • Lymphedema Hypoparathyroidism Syndrome

    […] dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy[orpha.net] R. : Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy. Am. J. Med.[lymphedemapeople.com] HYPOPARATHYROIDISM-LYMPHEDEMA SYNDROME TEXT Dahlberg et al. (1983) described 2 adult brothers with congenital lymphedema, hypoparathyroidism, nephropathy, mitral valve prolapse and brachytelephalangy[lymphedemapeople.com]

    Missing: Profound Psychomotor Developmental Delay
  • Chondrodysplasia Punctata

    Other features include hypoplasia of the midface and of the nasal bone, short stature, brachytelephalangy, and ectopic calcifications.[ncbi.nlm.nih.gov] […] post-mortem radiograph revealed generalized punctate calcification of cartilaginous structures, including airways, rib ends, spine, long bone epiphyses, tarsus and pinna, and brachytelephalangy[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.[ncbi.nlm.nih.gov]

    Missing: Profound Psychomotor Developmental Delay
  • Hyperphosphatasia with Mental Retardation Syndrome 4

    Only one reported patient (patient 4 in 5 ) did not present with brachytelephalangy.[nature.com] Definition An autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly[uniprot.org] Her hands and feet show bilateral brachytelephalangy including small nails.[databases.lovd.nl]

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

    Missing: Profound Psychomotor Developmental Delay
  • 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]

    Missing: Profound Psychomotor Developmental Delay
  • 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] Brachytelephalangy characteristic facies Kallmann[?] Braddock Carey syndrome[?] Braddock Jones Superneau syndrome[?] Bradykinesia[?] Brain cavernous angioma[?][encyclopedia.kids.net.au] Brachymesophalangy type 2 Brachymetapody anodontia hypotrichosis albinoidism Brachymorphism onychodysplasia dysphalangism syndrome Brachyolmia recessive Hobaek type Brachyolmia Brachytelephalangy[bioreference.net]

    Missing: Profound Psychomotor Developmental Delay
  • Familial Developmental Dysphasia

    Brachymésophalangie members short mesomelic bones anomalies Standard Brachymésophalangie 2 Brachymésophalangie types 2 and 5 Brachymorphism onchodysplasy dysphalangism syndrome Brachyolmy Brachytelephalangie[wikipedia.qwika.com] Brachytelephalangy characteristic facies Kallmann[?] Braddock Carey syndrome[?] Braddock Jones Superneau syndrome[?] Bradykinesia[?] Brain cavernous angioma[?][encyclopedia.kids.net.au] Brachymesophalangy type 2 Brachymetapody anodontia hypotrichosis albinoidism Brachymorphism onychodysplasia dysphalangism syndrome Brachyolmia recessive Hobaek type Brachyolmia Brachytelephalangy[ipfs.io]

    Missing: Profound Psychomotor Developmental Delay
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    The manifestations included severe intrauterine and postnatal growth failure, microcephaly, a distinctive facial appearance, micromelia, brachytelephalangy, coxa vara, and[ncbi.nlm.nih.gov] His arms andthighs were somewhat short, and there was mild dis-proportion due to long trunk and short limbs (Fig. 4),mild brachytelephalangy of all fingers, brachydactylyand[myslide.es]

    Missing: Profound Psychomotor Developmental Delay

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