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neurodevelopmental disorder with alopecia and brain abnormalities - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Absent eyebrow, Generalized hypotonia, Lower limb spasticity, and Hypertelorism and others; and very common findings: Polyhydramnios. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Lower limb spasticity, Aggressive behavior, Cerebral calcification
Head and neck	4	Macrocephaly at birth, Thin upper lip vermilion, High palate
Skin	2	Small nail, Dry skin
Muscles	2	Generalized hypotonia, Neonatal hypotonia
Arms and legs	2	Lower limb spasticity, Clinodactyly of the 5th finger
Pregnancy and birth	2	Decreased fetal movement, Neonatal hypotonia
Digestive system	1	Feeding difficulties in infancy
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)
Lab test results	1	Hyperbilirubinemia
Eyes	1	Ptosis

Age of onset: newborn period, before birth, at birth.

GeneReviews

Clinical Guidance

To date, nine individuals from nine families have been reported with a pathogenic variant in ODC1 [, , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Bachmann-Bupp Syndrome: Frequency of Select Features

Feature	% of Personsw/Feature	Comment
Alopecia	9/9 (100%)	—
Nonspecific dysmorphic features	9/9 (100%)	No specific pattern identified
Developmental delay1

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 Bachmann-Bupp syndrome (BABS) have been published.

Suggestive Findings

BABS should be considered in individuals with the following clinical, suggestive laboratory, and imaging findings.

Clinical findings

Prenatal history of polyhydramnios
An unusual pattern of noncongenital alopecia due to sudden-onset hair loss shortly after birth with congenitally absent or sparse eyebrows and eyelashes
Developmental delay, typically in the moderate to severe range
Hypotonia
Macrocephaly, defined as OFC of 97th percentile for age and sex
Macrosomia (defined as weight and length 95th percentile for age and sex) in early infancy
Recurrent follicular cysts

Source: GeneReviews — "Bachmann-Bupp Syndrome"

GeneReviews

Differential Diagnosis

Table 3. Selected Genetic Disorders in the Differential Diagnosis of Bachmann-Bupp Syndrome

Gene(s)	DiffDx Disorder	MOI	Features Observed in DiffDx Disorder BABS	Features Distinguishing from BABS
CHD3	Snijders Blok-Campeau syndrome (SNIBCPS; OMIM 618205)	AD	DD, macrocephaly, hypotonia	In SNIBCPS: ventriculomegaly, common dysmorphic features, joint laxity

Genetic testing for ODC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neurodevelopmental disorder with alopecia and brain abnormalities has been reported in the published literature.

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 with alopecia and brain abnormalities. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for neurodevelopmental disorder with alopecia and brain abnormalities, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for neurodevelopmental disorder with alopecia and brain abnormalities. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor	Designated	Exclusivity End	Designation Status
eflornithine HCl	eflornithine HCl	Orbus Therapeutics, Inc.	2024	—	Designated

Gene therapy approaches for neurodevelopmental disorder with alopecia and brain abnormalities have been reported in the published literature.

GeneReviews

Management Guidelines

No clinical practice guidelines for Bachmann-Bupp syndrome (BABS) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with BABS, 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 Bachmann-Bupp Syndrome

System/Concern	Evaluation	Comment
Constitutional	Measurement of growth parameters	To evaluate for overgrowth in infancy/childhood Gastrointestinal/
Feeding	Gastroenterology/ nutrition/ feeding team eval

Clinical Trials

View trials for neurodevelopmental disorder with alopecia and brain abnormalities

Explore Trials

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 Bachmann-Bupp Syndrome

System/Concern	Evaluation	Frequency
Behavioral	Behavioral assessment for signs of ASD, attention, aggressive or self-injurious behavior	Annually
Neurologic	Monitor those w/seizures as clinically indicated.	At each visit Assess for new manifestations such as seizures changes in tone.
Eyes	Assessment by an ophthalmologist	Annually or as clinically indicated Hearing
Skin/hair	Complete skin eval for follicular cysts	At least annually Miscellaneous/
Other	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) care coordination.	At each visit ASD = autism spectrum disorder; OT = occupational therapy; PT = physical therapy

Source: GeneReviews — "Bachmann-Bupp Syndrome"

Phenotype severity distribution: 18 always present features, 1 very common feature, 8 common features.

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 neurodevelopmental disorder with alopecia and brain abnormalities.

81 publications have been identified in PubMed for neurodevelopmental disorder with alopecia and brain abnormalities. Research spans Case Report / Case Series (46%), Basic Science / Preclinical (26%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Patient case studies	37	46%
Laboratory research	21	26%
Disease patterns and progression	12	15%
Research summaries	4	5%
Testing and diagnosis research	3	4%
New treatment approaches	2	2%
Other research	1	1%
Clinical study results	1	1%

Recent Publications

Guberman G (2026). [PMID: 41539009](https://pubmed.ncbi.nlm.nih.gov/41539009/). *Pediatric neurology*. [Case Report / Case Series]
Ajmone PF (2026). [PMID: 41681065](https://pubmed.ncbi.nlm.nih.gov/41681065/). *American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics*. [Case Report / Case Series]
Mo L (2026). [PMID: 41948843](https://pubmed.ncbi.nlm.nih.gov/41948843/). *Epileptic Disord*. [Diagnostic / Biomarker]
Li R (2026). [PMID: 41931584](https://pubmed.ncbi.nlm.nih.gov/41931584/). *Prenat Diagn*. [Case Report / Case Series]
Lilles S (2026). [PMID: 42188676](https://pubmed.ncbi.nlm.nih.gov/42188676/). *Neurol Int*. [Epidemiology / Natural History]
Cicala G (2026). [PMID: 41610868](https://pubmed.ncbi.nlm.nih.gov/41610868/). *Neuropediatrics*. [Case Report / Case Series]
Uguen K (2026). [PMID: 41577671](https://pubmed.ncbi.nlm.nih.gov/41577671/). *Nature communications*. [Basic Science / Preclinical]
Bland EM (2026). [PMID: 42178607](https://pubmed.ncbi.nlm.nih.gov/42178607/). *Am J Med Genet A*. [Case Report / Case Series]
Xu D (2026). [PMID: 41232796](https://pubmed.ncbi.nlm.nih.gov/41232796/). *Experimental neurology*. [Case Report / Case Series]
Chauvet-Piat E (2026). [PMID: 41789168](https://pubmed.ncbi.nlm.nih.gov/41789168/). *Frontiers in neurology*. [Epidemiology / Natural History]

Kisho

neurodevelopmental disorder with alopecia and brain abnormalities

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Orphan Drug Designations

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

neurodevelopmental disorder with alopecia and brain abnormalities

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Orphan Drug Designations

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team