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Aplastic/hypoplastic lacrimal glands

MedGen UID:
320646
Concept ID:
C1835602
Finding
Synonyms: Absent/underdeveloped lacrimal glands; Absent/underdeveloped tear glands
 
HPO: HP:0008038

Definition

Absence or underdevelopment of the lacrimal gland. [from HPO]

Term Hierarchy

Conditions with this feature

Fontaine progeroid syndrome
MedGen UID:
394125
Concept ID:
C2676780
Disease or Syndrome
SLC25A24 Fontaine progeroid syndrome is a multisystem connective tissue disorder characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time. Characteristic radiographic features include turribrachycephaly with widely open anterior fontanelle, craniosynostosis, and anomalies of the terminal phalanges. Cardiovascular, genitourinary, ocular, and gastrointestinal abnormalities may also occur. To date, 13 individuals with a molecularly confirmed diagnosis of SLC25A24 Fontaine progeroid syndrome have been described.

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