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microcephalic primordial dwarfism, Alazami type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephalic primordial dwarfism, Alazami type

MONDO:0014031

Also known as:Alazami syndromeALAZSfacial dysmorphism, intellectual disability, and primordial dwarfism

Overview

Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

GeneticsAutosomal recessive · LARP7 (chr 4)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Severe short stature, Wide mouth, Deeply set eye, and Severe intellectual disability and others; and very common findings: Decreased body weight, Malar flattening, and Widely spaced teeth. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Global developmental delay, Depressed nasal bridge, Severe intellectual disability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LARP7 encodes La ribonucleoprotein 7, transcriptional regulator (582 aa). RNA-binding protein that specifically binds distinct small nuclear RNA (snRNAs) and regulates their processing and function. Highest expression in Cells EBV-transformed lymphocytes (52.2 TPM) and Artery Tibial (42.2 TPM).

Microcephalic primordial dwarfism, Alazami type is associated with mutations in the LARP7 gene on chromosome 4.

LARP7 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for LARP7 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 3 very common features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for microcephalic primordial dwarfism, Alazami type.

10 publications have been identified in PubMed for microcephalic primordial dwarfism, Alazami type. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (30%), and Other (10%).

Research Type	Count	% of Total
Laboratory research	5	50%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 9:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615071

Orphanet

European rare disease database

Orphanet:319671

GARD

Genetic and Rare Diseases Info Center

GARD:17468

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

microcephalic primordial dwarfism, Alazami type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

microcephalic primordial dwarfism, Alazami type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications