Microcephalic Primordial Dwarfism, Alazami Type

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Microcephalic Primordial Dwarfism, Alazami Type

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge
  • Wide nasal bridge

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Microcephalic Primordial Dwarfism, Alazami Type Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism, alazami syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Microcephalic Primordial Dwarfism, Alazami Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Primordial Dwarfism Panel.

By Genetic Services Laboratory University of Chicago (United States).

PLK4, XRCC4, CRIPT, PCNT, ORC6, CENPJ, CDC6, GMNN, RTTN, CDK5RAP2, CUL7, POC1A, CDT1, LARP7, CCDC8, SASS6, CEP63, OBSL1, CEP152, DNA2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Primordial Dwarfism via LARP7 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

LARP7
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Selected Genetic Syndromes with skeletal involvement Panel.

By CeGaT GmbH (Germany).

SALL1, SF3B4, TBCE, TBX15, TBX3, TBX5, NIN, SALL4, PCNT, ORC6, CENPJ, CDC6, CDKN1C, CUL7, CREBBP, POC1A, CDT1, FAM111A, LARP7, CCDC8 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
LARP7.

By Fulgent Genetics Fulgent Genetics (United States).

LARP7
Specificity
100 %
Genes
100 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics (Finland).

RIT1, BCS1L, RRAS, SHOX, BRAF, SMC1A, SOS1, SOX2, SOX3, STAT5B, TBX19, TBX3, XRCC4, ACTB, HDAC8, ACTG1, CBL, SHOC2, PCNT, SRCAP , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
3-M Syndrome / Primordial Dwarfism Panel.

By Blueprint Genetics (Finland).

BCS1L, XRCC4, PCNT, SRCAP, ORC6, CENPJ, CDC45, CDC6, RTTN, CUL7, POC1A, CDT1, LARP7, CCDC8, CEP63, OBSL1, CEP152, RNU4ATAC, TRIM37, NOTCH2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics (Finland).

RIT1, RMRP, BCS1L, ROR2, BGN, RRAS, RUNX2, BMP1, BMP2, SEC24D, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, BRAF, SLC26A2, SMARCAL1, SMC1A , (...)

View the complete list with 284 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1; VF1 MITOCHONDRIAL COMPLEX I DEFICIENCY CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED; CILD36 FREEMAN-SHELDON SYNDROME ROBERTS SYNDROME; RBS

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