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neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome

MONDO:0018681

Overview

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.

GeneReviews

Clinical Guidance

To date, at least 75 individuals have been identified with a pathogenic variant in HNRNPK [, , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Select Features of Au-Kline Syndrome

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

Clinical diagnostic criteria for Au-Kline syndrome (AKS) have been proposed .

Suggestive Findings

AKS should be suspected in individuals with at least four of the following six characteristic facial features :

Long palpebral fissures
Ptosis
Shallow orbits

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 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for Au-Kline syndrome (AKS) have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with AKS, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended.

Prognosis

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

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. Au-Kline Syndrome: Recommended Surveillance

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:453499

GARD

Genetic and Rare Diseases Info Center

GARD:17785

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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Kisho

neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

KMT2D

Constitutional

Development

Psychiatric

Neurologic

Craniofacial

Cardiovascular

Genitourinary

Therapies Under Investigation

Clinical Trials

neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

KMT2D

Constitutional

Development

Psychiatric

Neurologic

Craniofacial

Cardiovascular

Genitourinary

Therapies Under Investigation

Clinical Trials