Congenital infiltrating lipomatosis of the face

Summary

Congenital infiltrating lipomatosis of the face (MONDO:0035592) is a disease. A subtype of lipomatosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 20

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		59	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

20 HPO clinical features (Orphanet curated; top 20 by frequency):

HPO ID	Term	Frequency
HP:0000324	Facial asymmetry	Obligate (100%)
HP:0000158	Macroglossia	Frequent (30-79%)
HP:0000293	Full cheeks	Frequent (30-79%)
HP:0000303	Mandibular prognathia	Frequent (30-79%)
HP:0006288	Advanced eruption of teeth	Frequent (30-79%)
HP:0007552	Abnormal subcutaneous fat tissue distribution	Frequent (30-79%)
HP:0011801	Enlargement of parotid gland	Frequent (30-79%)
HP:0012370	Prominence of the zygomatic bone	Frequent (30-79%)
HP:0030812	Enlarged tonsils	Frequent (30-79%)
HP:0430028	Hyperplasia of the maxilla	Frequent (30-79%)
HP:0000995	Melanocytic nevus	Occasional (5-29%)
HP:0001302	Pachygyria	Occasional (5-29%)
HP:0001572	Macrodontia	Occasional (5-29%)
HP:0002360	Sleep abnormality	Occasional (5-29%)
HP:0006349	Agenesis of permanent teeth	Occasional (5-29%)
HP:0007206	Hemimegalencephaly	Occasional (5-29%)
HP:0010535	Sleep apnea	Occasional (5-29%)
HP:0012433	Abnormal social behavior	Occasional (5-29%)
HP:0012478	Temporomandibular joint ankylosis	Occasional (5-29%)
HP:0031023	Multiple mucosal neuromas	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital infiltrating lipomatosis of the face
Mondo ID	MONDO:0035592
Orphanet	583097
ICD-10-CM	Q87.3
ICD-11	1669603167
UMLS	C5680341
MedGen	1814459
GARD	0022333
Is cancer (heuristic)	no

Also known as: CIL-F · facial infused lipomatosis · fibroadipose infiltrating lipomatosis

Disease family

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › musculoskeletal system benign neoplasm › benign connective and soft tissue neoplasm › benign lipomatous neoplasm › lipomatosis › congenital infiltrating lipomatosis of the face

Related subtypes (8): diffuse lipomatosis, mediastinal lipomatosis, pelvic lipomatosis, steroid lipomatosis, adiposis dolorosa, multiple symmetric lipomatosis, encephalocraniocutaneous lipomatosis, pancreatic lipomatosis duodenal stenosis

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.