Noonan syndrome-like disorder with loose anagen hair

Term ID

DOID:0080691

Synonyms

Definition

A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay. https://rarediseases.info.nih.gov/diseases/10719/disease

References

• GARD:10719
• ORDO:2701

Ontology

Human Disease   ( DOID:0080691 )