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Lacrimoauriculodentodigital syndrome 3(LADD3)

MedGen UID:
1824060
Concept ID:
C5774287
Disease or Syndrome
Synonyms: FGF10-Related Lacrimo-Auriculo-Dento-Digital Syndrome; LADD syndrome 3; LADD3
 
Gene (location): FGF10 (5p12)
 
Monarch Initiative: MONDO:0859578
OMIM®: 620193

Definition

Lacrimoauriculodentodigital syndrome-3 (LADD3) is a multiple congenital anomaly disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies (summary by Milunsky et al., 2006). [from OMIM]

Clinical features

From HPO
Short thumb
MedGen UID:
98469
Concept ID:
C0431890
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
Partial duplication of thumb phalanx
MedGen UID:
909031
Concept ID:
C4082168
Anatomical Abnormality
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Cupped ear
MedGen UID:
335186
Concept ID:
C1845447
Congenital Abnormality
Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Enamel hypoplasia
MedGen UID:
3730
Concept ID:
C0011351
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
Xerostomia
MedGen UID:
22735
Concept ID:
C0043352
Disease or Syndrome
Dryness of the mouth due to salivary gland dysfunction.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Widely spaced teeth
MedGen UID:
337093
Concept ID:
C1844813
Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Absent lacrimal punctum
MedGen UID:
356683
Concept ID:
C1867060
Disease or Syndrome
No identifiable superior and/or inferior lacrimal punctum.
Lacrimal duct aplasia
MedGen UID:
870330
Concept ID:
C4024773
Congenital Abnormality
A congenital defect resulting in absence of the lacrimal duct.
Absent eyelashes
MedGen UID:
334299
Concept ID:
C1843005
Congenital Abnormality
Lack of eyelashes.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Alacrima
MedGen UID:
87488
Concept ID:
C0344505
Disease or Syndrome
Absence of tear secretion.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Hajianpour MJ, Bombei H, Lieberman SM, Revell R, Krishna R, Gregorsok R, Kao S, Milunsky JM
J Am Dent Assoc 2017 Mar;148(3):157-163. Epub 2016 Dec 30 doi: 10.1016/j.adaj.2016.11.016. PMID: 28043400
Santo RO, Golbert MB, Akaishi PM, Cruz AA, Cintra MB
Ophthalmic Plast Reconstr Surg 2013 May-Jun;29(3):e67-8. doi: 10.1097/IOP.0b013e31826cb897. PMID: 23128532

Clinical prediction guides

Cannova S, Meossi C, Grilli F, Milani D, Alberti F, Cesaretti C, Marchisio PG, Crosti F, Pezzani L
Clin Genet 2024 Mar;105(3):313-316. Epub 2023 Nov 22 doi: 10.1111/cge.14455. PMID: 37990933

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