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severe achondroplasia-developmental delay-acanthosis nigricans syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Severe short stature, Intellectual disability, Hypoplasia of the corpus callosum, and Global developmental delay and others; and common findings: Tibial bowing, Hearing loss (hearing impairment), Femoral bowing, and Focal impaired awareness seizure and others. 46 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Seizure, Focal impaired awareness seizure, Profound intellectual disability
Lungs and breathing	4	Central apnea, Respiratory failure, Respiratory distress
Skin	3	Palmoplantar cutis laxa, Skin tags, Redundant skin
Bones and joints	3	Femoral bowing, Excessive inward curve of the lower back (lumbar hyperlordosis), Excessive outward curvature of the upper spine (kyphosis)
Growth and development	2	Severe short stature, Disproportionate short stature
Ears	2	Hearing loss (hearing impairment), Recurrent otitis media
Heart and blood vessels	2	High blood pressure in lung arteries (pulmonary arterial hypertension), Congestive heart failure
Digestive system	1	Gastroesophageal reflux
Kidneys and urinary system	1	Urinary incontinence
Head and neck	1	Macrocephaly

GeneReviews

Clinical Guidance

Individuals with achondroplasia have short stature with rhizomelic shortening of the limbs, macrocephaly, characteristic facies with frontal bossing and midface retrusion, exaggerated lumbar lordosis, limitation of elbow extension and rotation, genu varum, brachydactyly, and trident appearance of the hands. Excess mobility of the knees, hips, and most other joints is common . Growth. Average adult height for men with achondroplasia is 129.9 ± 6.25 cm (51 inches) and for women, 122.4 ± 5.9 cm (48 inches). There are updated growth charts available for length, weight, head circumference, and height-to-weight ratio . Vosoritide, a C-type natriuretic peptide (CNP) analog, was approved to increase height in individuals with achondroplasia starting at birth. Studies showed an average of 1.

Source: GeneReviews — "Achondroplasia"

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 severe achondroplasia-developmental delay-acanthosis nigricans syndrome. The disease remains an area of unmet medical need.

Gene therapy approaches for severe achondroplasia-developmental delay-acanthosis nigricans syndrome have been reported in the published literature.

GeneReviews

Management Guidelines

Recommendations for health supervision of children with achondroplasia were outlined by the American Academy of Pediatrics Committee on Genetics . These recommendations serve as guidelines and do not replace individual decision making. The review by also provides management recommendations. Specialized skeletal dysplasia clinics exist; their recommendations may vary slightly from these general guidelines. Evaluations Following Initial Diagnosis Clinical manifestations in achondroplasia vary modestly. In order to establish the extent of disease in an individual diagnosed with achondroplasia, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Achondroplasia: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
Growth	Documentation of length, weight, head circumference compared w/achondroplasia-specific growth standards	—
Hydrocephalus	Brain imaging as soon after diagnosis as possible to assess ventricular size	Neurologic/ Musculoskeletal
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention Restrictive pulmonary disease
Obstructive sleep apnea (OSA)	If polysomnography shows OSA, referral to ENT	Significant OSA can occur w/craniocervical junction stenosis given that it may worsen hypotonia. MRI of craniocervical junction should be obtained in newborn period.
Hearing

Source: GeneReviews — "Achondroplasia"

Clinical Trials

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Prognosis

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

GeneReviews

Surveillance Guidelines

Recommendations for surveillance are incorporated into the American Academy of Pediatrics 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 7. Achondroplasia: Recommended Surveillance

System/Concern	Evaluation	Frequency
General	Consider eval w/geneticist or other provider experienced in care of persons w/bone dysplasias.	At least every 6 mos in infants toddlers, annually in children, every 5 yrs in adults
Growth	Monitor height weight using growth curves standardized for achondroplasia.1	At each visit Obesity
Head growth/ Hydrocephalus	Measure occipitofrontal circumference use charts standardized for achondroplasia.5	At every visit until age ~6 yrs then throughout childhood at well checks clinical genetics visits
Narrow craniocervical junction	Neurologic exam incl monitoring for signs of cervical myelopathy such as persistent hypotonia, hyperreflexia, clonus, asymmetries on neurologic exam or w/function	At every visit in infancy childhood Development
Restrictive pulmonary disease	Assess for persistent tachypnea, poor weight gain, or evidence of respiratory failure.	At each visit throughout infancy

Source: GeneReviews — "Achondroplasia"

Phenotype severity distribution: 5 always present features, 15 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 severe achondroplasia-developmental delay-acanthosis nigricans syndrome.

146 publications have been identified in PubMed for severe achondroplasia-developmental delay-acanthosis nigricans syndrome. Kisho has analyzed 74 by research type. Research spans Review / Meta-Analysis (39%), Case Report / Case Series (24%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Research summaries	29	39%
Patient case studies	18	24%
Disease patterns and progression	7	9%
Clinical study results	6	8%
Testing and diagnosis research	4	5%
Laboratory research	4	5%
Other research	3	4%
New treatment approaches	3	4%

Recent Publications

Savarirayan R (2026). [PMID: 41247754](https://pubmed.ncbi.nlm.nih.gov/41247754/). *JAMA Pediatr*. [Clinical Trial Publication]
Tripathy K (2026). [PMID: 41517578](https://pubmed.ncbi.nlm.nih.gov/41517578/). *J Clin Med*. [Review / Meta-Analysis]
Tarín JJ (2026). [PMID: 41767346](https://pubmed.ncbi.nlm.nih.gov/41767346/). *Health Sci Rep*. [Review / Meta-Analysis]
Sado A (2026). [PMID: 42122017](https://pubmed.ncbi.nlm.nih.gov/42122017/). *Diagnostics (Basel)*. [Review / Meta-Analysis]
Kitamura T (2026). [PMID: 42128842](https://pubmed.ncbi.nlm.nih.gov/42128842/). *Endocr J*. [Case Report / Case Series]
Jiang X (2026). [PMID: 41533385](https://pubmed.ncbi.nlm.nih.gov/41533385/). *JAMA Dermatol*. [Case Report / Case Series]
Wang K (2026). [PMID: 41608093](https://pubmed.ncbi.nlm.nih.gov/41608093/). *World J Diabetes*. [Case Report / Case Series]
Cehic M (2026). [PMID: 41022298](https://pubmed.ncbi.nlm.nih.gov/41022298/). *J Pediatr Adolesc Gynecol*. [Case Report / Case Series]
Lin X (2026). [PMID: 41360184](https://pubmed.ncbi.nlm.nih.gov/41360184/). *Gene*. [Case Report / Case Series]
Gheshlagh RA (2025). [PMID: 40330136](https://pubmed.ncbi.nlm.nih.gov/40330136/). *Case Rep Med*. [Case Report / Case Series]

Kisho

severe achondroplasia-developmental delay-acanthosis nigricans syndrome

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severe achondroplasia-developmental delay-acanthosis nigricans syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

FGFR3

Treatment

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