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hereditary lethal multiple congenital anomalies/dysmorphic syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary lethal multiple congenital anomalies/dysmorphic syndrome

MONDO:0043009

Also known as:genetic lethal multiple congenital anomalies/dysmorphic syndrome

Overview

An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.

OnsetCONGENITAL, ANTENATAL

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.

No HPO annotations are available for this condition.

Age of onset: at birth, before birth.

GeneReviews

Clinical Guidance

Initially believed to be pathognomonic of Strmme syndrome, small intestine atresia is now considered a distinctive but nonobligatory feature. A highly variable clinical presentation is observed among affected individuals that may range from mid-gestation lethality, to multisystem involvement with features implicated in the ciliopathies, to nonsyndromic microcephaly with developmental delay. To date, at least 26 individuals have been identified with pathogenic variants in CENPF [, , , , , , , , , , , , , ]. The following description of the phenotypic features associated with Strmme syndrome is based on 25 individuals with clinical descriptions from these reports. Table 2. Strmme Syndrome: Frequency of Select Features

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for Strmme syndrome have been published.

Suggestive Findings

Strmme syndrome should be suspected in individuals with the following clinical, imaging, and family history findings.

Clinical findings

Small bowel intestinal atresia, in particular apple peel intestinal atresia

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for hereditary lethal multiple congenital anomalies/dysmorphic syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for Strmme syndrome have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Strmme syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Strmme Syndrome

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 6.

Recommended Surveillance for Individuals with Strmme Syndrome

System/Concern | Evaluation | Frequency

Growth/Feeding

Measurement of growth parameters

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 hereditary lethal multiple congenital anomalies/dysmorphic syndrome.

69 publications have been identified in PubMed for hereditary lethal multiple congenital anomalies/dysmorphic syndrome. Research spans Case Report / Case Series (41%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	28	41%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:471383

GARD

Genetic and Rare Diseases Info Center

GARD:21947

Questions for Your Care Team

→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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Feature	Proportion of Persons w/Feature	Comment
Intestinal atresia	Small bowel intestinal atresia	14/25
Neurodevelopmental	Microcephaly	21/23
Developmental delay/ intellectual disability	13/14	—
Structural brain anomalies	9/15	Corpus callosum agenesis, hydrocephalus, pachygyria, lissencephaly, holoprosencephaly, cerebral cerebellar hypoplasia
Ophthalmologic	Anterior segment anomalies	9/14
Microphthalmia	8/14	Unilateral or bilateral
Genitourinary anomalies	Hypoplastic kidney	6/16
Cryptorchidism	4/9	—
Other	Congenital heart disease	5/182
Polydactyly	2/25	Preaxial
Accessory spleen	2/11	Three of the individuals with intestinal atresia reported in the literature did not have the affected segment specified and are therefore excluded from the denominator. 2. Physiologic patent ductus arteriosus due to prematurity is not included. Small bowel atresia.

GeneReviews

Differential Diagnosis

Strmme syndrome. Because Strmme syndrome is associated with a highly variable clinical presentation, phenotypic features are often not sufficient to diagnose the condition. All disorders that fall within the spectrum of ciliopathies should be considered in the differential diagnosis. Intestinal atresia. Syndromes of interest in the differential diagnosis of intestinal atresia are summarized in . Table 3. Genes of Interest in the Differential Diagnosis of Intestinal Atresia

Gene	Disorder	MOI	Distinctive Features
MYCN	Feingold syndrome 1 (FS1)	AD	Unlike Strmme syndrome, FS1 is assoc w/:; Digital anomalies incl toe syndactyly, thumb hypoplasia, brachymesophalangy;; Tracheoesophageal atresia.
PI4KA	PI4KA-related multiple intestinal atresia ± immunodeficiency (See PI4KA-Related Disorder.)	AR	Unlike Strmme syndrome, PI4KA-related disorder may be assoc w/immunodeficiency.
RFX6	Mitchell-Riley syndrome (OMIM 615710)	AR	Unlike Strmme syndrome, Mitchell-Riley syndrome is assoc w/:; GI involvement incl cholestasis, gallbladder aplasia or hypoplasia, hypoplastic or annular pancreas;; Neonatal or childhood onset diabetes.
TTC7A	Gastrointestinal defects immunodeficiency syndrome 1 (GIDID1) (OMIM 243150)	AR	Unlike Strmme syndrome, GIDID1 is assoc w/:; GI involvement (e.g., hepatitis, omphalocele);; Immunodeficiency w/thymus hypoplasia. AD = autosomal dominant; AR = autosomal recessive; GI = gastrointestinal; MOI = mode of inheritance

Source: GeneReviews — "Strmme Syndrome"

System/Concern	Evaluation	Comment
Feeding	Gastroenterologist/ GI surgeon/ nutrition/ feeding team eval	To incl eval of intestinal atresia feeding difficulties
Neurologic	Neurologic eval	Consider brain MRI to delineate structural brain anomalies if there is evidence of neurologic abnormalities or DD.
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech/language eval; Eval for early intervention/ special education
Ophthalmologic	Ophthalmologic exam	To assess for structural eye anomalies visual impairment Genitourinary anomalies
heart disease	Echocardiogram	To assess valvular anatomic defects Genetic
counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of Strmme syndrome to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with Strmme Syndrome Manifestation/Concern	Treatment	Considerations/Other
Intestinal atresia	Surgical treatment of gastrointestinal atresia	Per gastroenterologist/ GI surgeon Developmental delay/
Intellectual disability	See .	—
Ophthalmologic	Per ophthalmologist	—
Renal anomalies	Per renal consultants	—
Cardiac anomalies	Per cardiac consultants	Family/Community

Kisho

hereditary lethal multiple congenital anomalies/dysmorphic syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Growth/Feeding

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Development

Ophthalmologic

Community

Recent Publications

hereditary lethal multiple congenital anomalies/dysmorphic syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Growth/Feeding

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Development

Ophthalmologic

Community

Recent Publications