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Hypoplastic facial bones

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Concept ID:
Synonyms: Decreased size of facial bones; Decreased size of facial skeleton; Flattening of facial bones; Flattening of facial skeleton; Hypoplasia of facial skeleton; Hypotrophic facial bones; Hypotrophic facial skeleton; Small facial bones; Small facial skeleton; Underdevelopment of facial bones; Underdevelopment of facial skeleton
HPO: HP:0002692

Term Hierarchy

Conditions with this feature

Dyggve-Melchior-Clausen syndrome
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Disease or Syndrome
Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests (summary by El Ghouzzi et al., 2003).
Neonatal pseudo-hydrocephalic progeroid syndrome
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Disease or Syndrome
Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013).
Yunis-Varon syndrome
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Disease or Syndrome
Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).
Smith-McCort dysplasia 1
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Disease or Syndrome
Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.
Short-rib thoracic dysplasia 13 with or without polydactyly
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Disease or Syndrome
An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.
Restrictive dermopathy 2
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Disease or Syndrome
Restrictive dermopathy is a rare genodermatosis characterized mainly by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures, and an early neonatal lethal course. Liveborn children usually die within the first week of life (summary by Navarro et al., 2004). For a discussion of genetic heterogeneity of restrictive dermopathy, see RSDM1 (275210).

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