Lacrimoauriculodentodigital Syndrome (LADD)

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Disease Ontology 12 DOID:0050331 OMIM® 57 149730 KEGG 36 H00642 MeSH 44 D007766 D014071 D017880 D034381 more ICD10 via Orphanet 33 Q87.8

UMLS via Orphanet 71 C0265269 Orphanet 58 ORPHA2363 MedGen 41 C0265269 SNOMED-CT via HPO 68 194021007 204208005 204942005 205135003 205139009 205170001 2055003 22006008 231841004 246800008 246803005 246865000 253215004 253217007 263681008 26597004 300268000 314022009 32916005 416920000 429641000124109 56893005 64969001 699382004 699421005 74895004 77507001 80967001 85777005 87715008 91514001 93288001 more UMLS 70 C0265269 C0266184

MedlinePlus Genetics : ⁴³ Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital).The lacrimal system consists of structures in the eye that produce and secrete tears. Lacrimal system malformations that can occur with LADD syndrome include an underdeveloped or absent opening to the tear duct at the edge of the eyelid (lacrimal puncta) and blockage of the channel (nasolacrimal duct) that connects the inside corner of the eye where tears gather (tear sac) to the nasal cavity. These malformations of the lacrimal system can lead to chronic tearing (epiphora), inflammation of the tear sac (dacryocystitis), inflammation of the front surface of the eye (keratoconjunctivitis), or an inability to produce tears.Ears that are low-set and described as cup-shaped, often accompanied by hearing loss, are a common feature of LADD syndrome. The hearing loss may be mild to severe and can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss).People with LADD syndrome may have underdeveloped or absent salivary glands, which impairs saliva production. A decrease in saliva leads to dry mouth (xerostomia) and a greater susceptibility to cavities. Individuals with LADD syndrome often have small, underdeveloped teeth with thin enamel and peg-shaped front teeth (incisors).Hand deformities are also a frequent feature of LADD syndrome. Affected individuals may have abnormally small or missing thumbs. Alternatively, the thumb might be duplicated, fused with the index finger (syndactyly), abnormally placed, or have three bones instead of the normal two and resemble a finger. Abnormalities of the fingers include syndactyly of the second and third fingers, extra or missing fingers, and curved pinky fingers (fifth finger clinodactyly). Sometimes, the forearm is also affected. It can be shorter than normal with abnormal wrist and elbow joint development that limits movement.People with LADD syndrome may also experience other signs and symptoms. They can have kidney problems that include hardening of the kidneys (nephrosclerosis) and urine accumulation in the kidneys (hydronephrosis), which can impair kidney function. Recurrent urinary tract infections and abnormalities of the genitourinary system can also occur. Some people with LADD syndrome have an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). The signs and symptoms of this condition vary widely, even among affected family members.

MalaCards based summary : Lacrimoauriculodentodigital Syndrome, also known as ladd syndrome, is related to dacryocystocele and synostosis. An important gene associated with Lacrimoauriculodentodigital Syndrome is FGF10 (Fibroblast Growth Factor 10), and among its related pathways/superpathways are MAPK signaling pathway and Endocytosis. Affiliated tissues include eye, kidney and uterus, and related phenotypes are carious teeth and hypodontia

Disease Ontology : ¹² A syndrome that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2363 Definition Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss ; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.

OMIM® : ⁵⁷ Lacrimoauriculodentodigital syndrome is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). (149730) (Updated 20-May-2021)

KEGG : ³⁶ Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder characterizd by hypoplasia or aplasia of the lacrimal and salivary glands, cup shaped pinnae with sensorineural deafness, dental abnormalities with small teeth, and radial ray abnormalities in hands.

UniProtKB/Swiss-Prot : ⁷² Lacrimo-auriculo-dento-digital syndrome: An autosomal dominant ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Lacrimo-auriculo-dento-digital syndrome is characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup- shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed.

Clinical features from OMIM®:

149730 (Updated 20-May-2021)

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