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microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome

MONDO:0014096

Also known as:Woods-Crouchman-Huson syndromeWOODS syndrome

Overview

This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).

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: Limited elbow extension, Hypoplastic fifth toenail, Global developmental delay, and Lingual dystonia and others; and common findings: 3-4 finger cutaneous syndactyly, Thin vermilion border, Wide nasal bridge, and Frontal hirsutism and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Global developmental delay, Lingual dystonia, Spastic paraplegia

Diagnosis

Biomarker and diagnostic research for microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features, 9 common features.

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 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome.

142 publications have been identified in PubMed for microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome. Research spans Review / Meta-Analysis (65%), Basic Science / Preclinical (14%), and Other (6%).

Research Type	Count	% of Total
Research summaries	92	65%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615236

Orphanet

European rare disease database

Orphanet:137658

GARD

Genetic and Rare Diseases Info Center

GARD:3498

Questions for Your Care Team

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Kisho

microcephaly-intellectual disability-phalangeal and neurological anomalies 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

microcephaly-intellectual disability-phalangeal and neurological anomalies 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