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familial papillary or follicular thyroid carcinoma (FNMTC) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial papillary or follicular thyroid carcinoma

MONDO:0017895

Also known as:FNMTCfamilial nonmedullary thyroid gland carcinomafamilial pure nonmedullary thyroid carcinoma

Overview

A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients.

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

HRAS-related Costello syndrome (Costello syndrome) affects multiple organ systems. The typical presentation is characterized by diffuse hypotonia and severe feeding difficulties in infancy; short stature; developmental delay or intellectual disability; characteristic facial features; curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement (including hypertrophic cardiomyopathy [HCM], congenital heart defects, and arrhythmia). Postnatal cerebellar overgrowth can result in Chiari I malformation with associated hydrocephalus or syringomyelia. There is an approximate 15% lifetime risk for malignant tumors in individuals with Costello syndrome including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults. To date, more than 100 individuals have been identified with a pathogenic variant in HRAS [, , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Costello 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 HRAS-related Costello syndrome (Costello syndrome) have been published to date.

Suggestive Findings

Costello syndrome should be suspected in probands with the following clinical and neuroimaging findings and family history.

Clinical Findings

Prenatal findings

On ultrasound examination:

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 familial papillary or follicular thyroid carcinoma. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Clinical practice guidelines for the management of HRAS-related Costello syndrome (Costello syndrome) have been published . Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Costello syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Costello Syndrome: Recommended Evaluations Following Initial Diagnosis

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 7. Costello Syndrome: Recommended Surveillance

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 familial papillary or follicular thyroid carcinoma.

237 publications have been identified in PubMed for familial papillary or follicular thyroid carcinoma. Kisho has analyzed 155 by research type. Research spans Review / Meta-Analysis (31%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Research summaries	48	31%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:319487

GARD

Genetic and Rare Diseases Info Center

GARD:8488

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?

← Back to All Diseases

Feature	% or # of Persons w/Feature	Comment
Failure to thrive	95%	Failure to thrive is typical in infancy.
Short stature	95%	Stature typically remains short, even w/GH treatment. Gastrointestinal/ feeding
G-tube requirement	65%	Inability to eat by mouth is common throughout infancy early childhood.; Weight gain remains slow, even w/feeding tube use high caloric intake. Pyloric stenosis
Hypotonia	70%	—
Chiari I malformation	50%	Chiari I malformation may develop over time.
Seizures	25%	Diagnosis of seizures should prompt investigation for hypoglycemia . Cardiac
Arrhythmia	55%	—
HCM	60%	—
Pulmonic valve stenosis	10%	—
Aortic dilatation	5%-10%	—
Atrial septal defects	5%-7%	—
Developmental delay	95%	—
Intellectual disability	80%	—
Anxiety	65%	Dermatologic
Papillomata	50%-60%	—
Callouses	65%	Musculoskeletal
Hip dysplasia	17%-45%	—
Osteopenia	45%	—
Scoliosis/kyphosis	17%-75%	Scoliosis kyphosis may increase w/age.
Ulnar deviation of fingers	82%	—
Elbow contractures	53%	—
Obstructive sleep apnea	7/10	—
GH deficiency	45%	—
Solid tumors (overall risk incl rhabdomyosarcoma, neuroblastoma, transitional cell carcinoma of bladder)	15%	See . Vision issues
Nystagmus	40%	—
Myopia	60%	Genitourinary
Cryptorchidism	50% of males	—
Renal anomalies	50%	Based on , , , , , , , , , Growth. Increased birth weight and head circumference (often 50th centile) for gestational age can lead to the categorization of Costello syndrome as a macrosomia disorder, which is misleading. Increased birth weight is instead related to fetal hydrops.

System/Concern	Evaluation	Comment
Constitutional	Measurement of height, weight, head circumference	Short stature FTT are common persist despite adequate caloric intake. Gastrointestinal/
Feeding	Assessment of nutritional status, feeding, GERD	Severe oral feeding difficulties are common in infants young children; a feeding tube is typically necessary.; FTT is common even with adequate caloric intake.
Neurologic	Eval by neurologist for clinical signs of Chiari I malformation, tethered cord, /or syringomyelia	Brain MRI for Chiari I malformation; MRI radiographs of lower spine to assess for tethered cord; Spinal cord MRI if syringomyelia suspected EEG
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education
Cardiac	Eval by cardiologist for congenital heart defects, HCM, arrhythmia	Standard eval
Respiratory	Refer as needed to pulmonologist	Upper lower airway issues may occur; hypertrophy of tonsils adenoids may contribute to upper airway obstruction.
Musculoskeletal	Eval by pediatric orthopedic surgeon	Assessment of spine extremities w/attention to hip joint abnormalities range of motion Genitourinary
Eyes	Ophthalmology eval	Nystagmus vision disturbance are common.; Retinal dystrophy keratoconus are rare.
Skin	Papillomata hyperkeratosis require referral to dermatologist.	Treat symptomatically.
Dental	Eval by pediatric dentist is recommended.	Enamel defects malocclusion are common.
Endocrine	Eval by endocrinologist for hypoglycemia GH deficiency	May require additional eval for dysregulated puberty Neurobehavioral/
Psychiatric	Neuropsychiatric eval as needed	In person age 4 yrs: screen for behavior issues incl sleep disturbances, ADHD, anxiety
Tumor screening	Assess need for tumor screening.	Risk for embryonal rhabdomyosarcoma neuroblastoma in younger persons transitional cell carcinoma in older persons
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of CS to facilitate medical personal decision making Family support
resources	By clinicians, wider care team, family support organizations	Assessment of family social structure to determine need for:; Community or such as Parent to Parent and Costello Syndrome Family Network; Social work involvement for parental support; Home nursing referral 1.
Costello Syndrome: Targeted Therapy Treatment Class	Mechanism of Action	Specific Drug
Kinase inhibitor	Reversible inhibitor of mitogen-activated extracellular signal-regulated kinase 1 (MEK1) MEK2 activation; of MEK1 MEK2 kinase activity	Trametinib

Kisho

familial papillary or follicular thyroid carcinoma

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

familial papillary or follicular thyroid carcinoma

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications