GTR Home > Conditions/Phenotypes > Greenberg dysplasia


Greenberg dysplasia, also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by Konstantinidou et al., 2008). Heterozygous, or rarely homozygous, mutations in the LBR gene can also cause Pelger-Huet anomaly (PHA; 169400). Oosterwijk et al. (2003) identified 11 reported patients with Pelger-Huet anomaly and homozygosity for mutations in the LBR gene and found that none had skeletal dysplasia, early lethality, congenital abnormalities, or skin abnormalities. They suggested that homozygous LBR mutations result in distinct mild (PHA homozygosity) or severe (Greenberg skeletal dysplasia) phenotypes based on allelic heterogeneity. Herman (2003) reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and HEM skeletal dysplasia. [from OMIM]

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Associated genes

Clinical features

  • Cardiomegaly
  • High forehead
  • Short stature
  • Abnormality of erythrocytes
  • Long clavicles
  • Extramedullary hematopoiesis
  • Absent or minimally ossified vertebral bodies
  • Lymphedema
  • Diaphyseal thickening
  • Metaphyseal cupping
  • Hepatic calcification
  • 11 pairs of ribs
  • Absent toenail
  • Limb undergrowth
  • Mesomelia
  • Hypoplastic vertebral bodies
  • Horizontal sacrum
  • Sclerosis of skull base
  • Bowing of the long bones
  • Pulmonary hypoplasia
  • Nonimmune hydrops fetalis
  • Rhizomelia
  • Anterior rib punctate calcifications
  • Sternal punctate calcifications
  • Laryngeal calcification
  • Malar flattening
  • Severe hydrops fetalis
  • Micrognathia
  • Pleural effusion
  • Postaxial foot polydactyly
  • Macrocephaly
  • Decreased skull ossification
  • Intestinal malrotation
  • Hypertelorism
  • Hypoplasia of the maxilla
  • Low-set ears
  • Cystic hygroma
  • Misalignment of teeth
  • Abnormality of the ribs
  • Short ribs
  • Narrow chest
  • Abnormality of the scapula
  • Short diaphyses
  • Brachydactyly syndrome
  • Postaxial hand polydactyly
  • Broad palm
  • Skull defect
  • Abnormal joint morphology
  • Hepatosplenomegaly
  • Omphalocele
  • Barrel-shaped chest
  • Polyhydramnios
  • Hypoplastic fingernail
  • Sandal gap
  • Abnormal lung lobation
  • Hepatomegaly
  • Abnormality of pelvic girdle bone morphology
  • Tracheal calcification
  • Micromelia
  • Flared metaphyses
  • Abnormality of cholesterol metabolism
  • Abnormality of bone mineral density
  • Pancreatic islet-cell hyperplasia
  • Supernumerary vertebral ossification centers
  • Depressed nasal bridge
  • Bone marrow hypocellularity
  • Lethal skeletal dysplasia
  • Multiple prenatal fractures
  • Abnormality of the calcaneus
  • Punctate vertebral calcifications
  • Abnormality of the vertebral spinous processes
  • Disproportionate short-limb short stature
  • Abnormal pelvis bone ossification
  • Abnormal ossification involving the femoral head and neck
  • Ulnar deviation of the hand
  • Short phalanx of finger
  • Epiphyseal stippling
  • Patchy variation in bone mineral density
  • Abnormal foot bone ossification
  • Toxemia of pregnancy
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