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Osteopetrosis-hypogammaglobulinemia syndrome

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Disease definition

Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.

ORPHA:178389

Classification level: Disorder

Synonym(s):
  • Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
  • Autosomal recessive osteopetrosis type 7

Prevalence: <1 / 1 000 000

Inheritance: Autosomal recessive

Age of onset: Infancy, Neonatal

ICD-10: Q78.2

ICD-11: 4A01.0Y

OMIM: 612301

UMLS: C4751205

GARD: 10106

A summary on this disease is available in Français, Español, Italiano, Nederlands, Polski
Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

General public
Article for general public
Svenska (2019) - Socialstyrelsen
Guidelines
Emergency guidelines
Français (2020.pdf) - Orphanet Urgences
Anesthesia guidelines
English (2016) - Orphananesthesia
Čeština (2016) - Orphananesthesia
Clinical practice guidelines
Français (2022) - PNDS Logo FSMR
Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.