LADD syndrome 1
- Synonyms
- FGFR2-Related Lacrimo-Auriculo-Dento-Digital Syndrome; Lacrimoauriculodentodigital syndrome 1
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (3 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Absence of Stensen duct
Absence of Stensen duct
- MedGen UID: 347668
- Concept ID: C1858569
- Finding: Finding
Abnormality of head or neck
- Absent lacrimal punctum
Absent lacrimal punctum
- MedGen UID: 356683
- Concept ID: C1867060
- Finding: Disease or Syndrome
Abnormality of head or neck
- Aplasia of the parotid gland
Aplasia of the parotid gland
- MedGen UID: 893144
- Concept ID: C4024215
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Broad forehead
Broad forehead
- MedGen UID: 338610
- Concept ID: C1849089
- Finding: Finding
Abnormality of head or neck
- Carious teeth
Carious teeth
- MedGen UID: 8288
- Concept ID: C0011334
- Finding: Disease or Syndrome
Abnormality of head or neck
- Conical incisor
Conical incisor
- MedGen UID: 341076
- Concept ID: C1856136
- Finding: Finding
Abnormality of head or neck
- Dacryocystitis
Dacryocystitis
- MedGen UID: 3686
- Concept ID: C0010930
- Finding: Disease or Syndrome
Abnormality of head or neck
- Delayed eruption of primary teeth
Delayed eruption of primary teeth
- MedGen UID: 341477
- Concept ID: C1849538
- Finding: Finding
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- Enamel hypoplasia
Enamel hypoplasia
- MedGen UID: 3730
- Concept ID: C0011351
- Finding: Disease or Syndrome
Abnormality of head or neck
- High forehead
High forehead
- MedGen UID: 65991
- Concept ID: C0239676
- Finding: Finding
Abnormality of head or neck
- Hypoplasia of the lacrimal punctum
Hypoplasia of the lacrimal punctum
- MedGen UID: 867206
- Concept ID: C4021564
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Hypoplastic lacrimal duct
Hypoplastic lacrimal duct
- MedGen UID: 368837
- Concept ID: C1968574
- Finding: Finding
Abnormality of head or neck
- Lacrimal gland aplasia
Lacrimal gland aplasia
- MedGen UID: 870377
- Concept ID: C4024822
- Finding: Finding
Abnormality of head or neck
- Lacrimal gland hypoplasia
Lacrimal gland hypoplasia
- MedGen UID: 350109
- Concept ID: C1863200
- Finding: Finding
Abnormality of head or neck
- Microdontia
Microdontia
- MedGen UID: 66008
- Concept ID: C0240340
- Finding: Congenital Abnormality
Abnormality of head or neck
- Nasolacrimal duct obstruction
Nasolacrimal duct obstruction
- MedGen UID: 226915
- Concept ID: C1281931
- Finding: Finding
Abnormality of head or neck
- Partial congenital absence of teeth
Partial congenital absence of teeth
- MedGen UID: 43794
- Concept ID: C0020608
- Finding: Congenital Abnormality
Abnormality of head or neck
- Periorbital fullness
Periorbital fullness
- MedGen UID: 1710990
- Concept ID: C4760994
- Finding: Finding
Abnormality of head or neck
- Telecanthus
Telecanthus
- MedGen UID: 140836
- Concept ID: C0423113
- Finding: Finding
Abnormality of head or neck
- Xerostomia
Xerostomia
- MedGen UID: 22735
- Concept ID: C0043352
- Finding: Disease or Syndrome
Abnormality of head or neck
- Absence of Stensen duct
- Abnormality of limbs
- 2-3 finger syndactyly
2-3 finger syndactyly
- MedGen UID: 96573
- Concept ID: C0432055
- Finding: Congenital Abnormality
Abnormality of limbs
- Absent proximal phalanx of thumb
Absent proximal phalanx of thumb
- MedGen UID: 867060
- Concept ID: C4021418
- Finding: Finding
Abnormality of limbs
- Absent radius
Absent radius
- MedGen UID: 235613
- Concept ID: C1405984
- Finding: Congenital Abnormality
Abnormality of limbs
- Bilateral triphalangeal thumbs
Bilateral triphalangeal thumbs
- MedGen UID: 867267
- Concept ID: C4021627
- Finding: Congenital Abnormality
Abnormality of limbs
- Broad hallux
Broad hallux
- MedGen UID: 401165
- Concept ID: C1867131
- Finding: Finding
Abnormality of limbs
- Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
- MedGen UID: 340456
- Concept ID: C1850049
- Finding: Congenital Abnormality
Abnormality of limbs
- Hypoplasia of the radius
Hypoplasia of the radius
- MedGen UID: 672334
- Concept ID: C0685381
- Finding: Congenital Abnormality
Abnormality of limbs
- Hypoplasia of the ulna
Hypoplasia of the ulna
- MedGen UID: 395934
- Concept ID: C1860614
- Finding: Congenital Abnormality
Abnormality of limbs
- Partial duplication of thumb phalanx
Partial duplication of thumb phalanx
- MedGen UID: 909031
- Concept ID: C4082168
- Finding: Anatomical Abnormality
Abnormality of limbs
- Preaxial polydactyly
Preaxial polydactyly
- MedGen UID: 87498
- Concept ID: C0345354
- Finding: Congenital Abnormality
Abnormality of limbs
- Radial deviation of the 3rd finger
Radial deviation of the 3rd finger
- MedGen UID: 869914
- Concept ID: C4024345
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short thumb
Short thumb
- MedGen UID: 98469
- Concept ID: C0431890
- Finding: Congenital Abnormality
Abnormality of limbs
- Small thenar eminence
Small thenar eminence
- MedGen UID: 335432
- Concept ID: C1846474
- Finding: Finding
Abnormality of limbs
- Triphalangeal thumb
Triphalangeal thumb
- MedGen UID: 66029
- Concept ID: C0241397
- Finding: Congenital Abnormality
Abnormality of limbs
- 2-3 finger syndactyly
- Abnormality of the eye
- Alacrima
Alacrima
- MedGen UID: 87488
- Concept ID: C0344505
- Finding: Disease or Syndrome
Abnormality of the eye
- Corneal perforation
Corneal perforation
- MedGen UID: 137914
- Concept ID: C0339293
- Finding: Injury or Poisoning
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Limbal stem cell deficiency
Limbal stem cell deficiency
- MedGen UID: 295775
- Concept ID: C1561989
- Finding: Disease or Syndrome
Abnormality of the eye
- Recurrent corneal erosions
Recurrent corneal erosions
- MedGen UID: 56353
- Concept ID: C0155119
- Finding: Disease or Syndrome
Abnormality of the eye
- Alacrima
- Abnormality of the genitourinary system
- Coronal hypospadias
Coronal hypospadias
- MedGen UID: 234660
- Concept ID: C1394030
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Nephrosclerosis
Nephrosclerosis
- MedGen UID: 14330
- Concept ID: C0027719
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal agenesis
Renal agenesis
- MedGen UID: 154237
- Concept ID: C0542519
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Coronal hypospadias
- Abnormality of the immune system
- Conjunctivitis
Conjunctivitis
- MedGen UID: 1093
- Concept ID: C0009763
- Finding: Disease or Syndrome
Abnormality of the immune system
- Conjunctivitis
- Abnormality of the integument
- Hyperextensible skin
Hyperextensible skin
- MedGen UID: 66023
- Concept ID: C0241074
- Finding: Finding
Abnormality of the integument
- Hyperextensible skin
- Ear malformation
- Cupped ear
Cupped ear
- MedGen UID: 335186
- Concept ID: C1845447
- Finding: Congenital Abnormality
Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Microtia
Microtia
- MedGen UID: 57535
- Concept ID: C0152423
- Finding: Congenital Abnormality
Ear malformation
- Mixed hearing impairment
Mixed hearing impairment
- MedGen UID: 102336
- Concept ID: C0155552
- Finding: Disease or Syndrome
Ear malformation
- Cupped ear
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