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microbrachycephaly-ptosis-cleft lip syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microbrachycephaly-ptosis-cleft lip syndrome

MONDO:0010007

Also known as:Richieri Costa-Guion Almeida-Ramos syndromeRichieri-COSTA/Guion-Almeida syndromemicrobrachycephaly ptosis cleft lip

Overview

Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.

GeneticsAutosomal recessive

Newborn Screening39 states (X-linked Adrenoleukodystrophy)

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: Narrow forehead, Palmoplantar cutis laxa, Strabismus, and Hearing loss (hearing impairment) and 27 more.

Organ System	Phenotype Count	Example Features
Head and neck	6	Narrow face, Microcephaly, Cleft palate
Eyes

Diagnosis

Microbrachycephaly-ptosis-cleft lip syndrome is included in newborn screening programs (X-linked Adrenoleukodystrophy) in 39 states.

Biomarker and diagnostic research for microbrachycephaly-ptosis-cleft lip syndrome has been reported in the published literature.

Prognosis

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 microbrachycephaly-ptosis-cleft lip syndrome.

200 publications have been identified in PubMed for microbrachycephaly-ptosis-cleft lip syndrome. Kisho has analyzed 73 by research type. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (22%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Laboratory research	24	33%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:268850

Orphanet

European rare disease database

Orphanet:2511

GARD

Genetic and Rare Diseases Info Center

GARD:3596

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→What follow-up testing and early intervention is recommended after a positive newborn screen?
→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

microbrachycephaly-ptosis-cleft lip syndrome

Overview

Clinical Presentation

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

microbrachycephaly-ptosis-cleft lip syndrome

Overview

Clinical Presentation

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