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Toriello-Lacassie-Droste Syndrome

OES


Presentation

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • […] dermoids syndrome Oculoectodermal syndrome Prevalence: Inheritance: Autosomal dominant or Autosomal recessive Age of onset: Infancy , Neonatal ICD-10: - OMIM: 600268 UMLS: C1838329 MeSH: - GARD: 10366 MedDRA: - The documents contained in this web site are presented[orpha.net]
Coarctation of the Aorta
  • […] of the aorta, arachnoid cysts in the brain, seizure disorder, hyperpigmented nevi, non-ossifying fibromas and a predisposition to develop giant cell tumors of the jaw. * [17594] The statements on this Web site have not been evaluated by the Food and[wellnessadvocate.com]
  • […] of aorta 33 HP:0001680 45 epibulbar dermoid 60 Very frequent (99-80%) 46 lower limb asymmetry 33 HP:0100559 47 abnormality of the penis 60 Occasional (29-5%) 48 cleft eyelid 60 Occasional (29-5%) 49 hyperactivity 33 HP:0000752 50 epidermal nevus 33 HP[malacards.org]
  • […] of the aorta Growth Other: growth failure Cardiovascular Vascular: moyamoya disease transient ischemic attacks Head And Neck Face: frontal parietal bossing (in some patients) Clinical features from OMIM: 600268 Human phenotypes related to Oculoectodermal[malacards.org]
  • It is characterized by aplasia cutis congenita (ACC), epibulbar dermoids, coarctation of the aorta, arachnoid cysts in the brain, seizure disorder, hyperpigmented nevi, non-ossifying fibromas and a predisposition to develop giant cell tumors of the jaw[qscience.com]
Lymphedema
  • […] lower limb asymmetry 33 HP:0100559 47 abnormality of the penis 60 Occasional (29-5%) 48 cleft eyelid 60 Occasional (29-5%) 49 hyperactivity 33 HP:0000752 50 epidermal nevus 33 HP:0010816 Symptoms via clinical synopsis from OMIM: 58 Muscle Soft Tissue: lymphedema[malacards.org]
  • Oculoectodermal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing: (show all 16) Graphical network of the top 20 diseases related to Oculoectodermal Syndrome: Symptoms via clinical synopsis from OMIM: 57 Muscle Soft Tissue: lymphedema[malacards.org]
  • […] aorta Narrowing of the aorta [ more ] 0001680 Epidermal nevus 0010816 Hyperactivity More active than typical 0000752 Hyperpigmentation of the skin Patchy darkened skin 0000953 Lower limb asymmetry Left and right leg differ in length or width 0100559 Lymphedema[rarediseases.info.nih.gov]
  • Biallelic mutation in the FAT4 gene can also cause Hennekam lymphangiectasia-lymphedema syndrome-2 (HKLLS2; 616006), a distinct disorder that shows overlapping features with VMLDS.Van Maldergem syndrome is an autosomal recessive disorder characterized[findzebra.com]
Feeding Difficulties
  • difficulties Feeding problems Poor feeding [ more ] 0011968 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Hearing impairment Deafness Hearing defect [ more ] 0000365 Laryngeal[rarediseases.info.nih.gov]
  • difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968 13 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486 14 short palm 60 33 frequent (33%) Frequent (79-30%) HP:0004279 15 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286[malacards.org]
  • difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968 10 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486 11 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279 12 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286[malacards.org]
Swelling
  • Narrowing of the aorta [ more ] 0001680 Epidermal nevus 0010816 Hyperactivity More active than typical 0000752 Hyperpigmentation of the skin Patchy darkened skin 0000953 Lower limb asymmetry Left and right leg differ in length or width 0100559 Lymphedema Swelling[rarediseases.info.nih.gov]
  • This case reports a 43-year-old male patient who presented with a longstanding midline swelling in the submental region.[read.qxmd.com]
Poor Feeding
  • feeding [ more ] 0011968 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Hearing impairment Deafness Hearing defect [ more ] 0000365 Laryngeal hypoplasia 0008749 Macrocephaly[rarediseases.info.nih.gov]
  • feeding; Anteriorly positioned anus GENITOURINARY: [External genitalia, male]; Hypospadias; Bifid scrotum; Micropenis; [Internal genitalia, male]; Cryptorchidism; [Kidneys]; Hypoplastic kidneys SKELETAL: Joint laxity; Skeletal dysplasia; Osteopenia;[findzebra.com]
Failure to Thrive
  • […] to thrive Faltering weight Weight faltering [ more ] 0001508 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510[rarediseases.info.nih.gov]
  • […] to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508 9 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365 10 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196 11 anteverted nares 60 33 frequent (33%) Frequent (79-30%[malacards.org]
  • […] to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508 5 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365 6 abnormal facial shape 59 32 occasional (7.5%) Occasional (29-5%) HP:0001999 7 short nose 59 32 frequent (33%) Frequent[malacards.org]
Hyperpigmentation
  • […] absent septum pellucidum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001331 24 epibulbar dermoid 59 32 hallmark (90%) Very frequent (99-80%) HP:0001140 25 abnormality of the ureter 59 32 frequent (33%) Frequent (79-30%) HP:0000069 26 generalized hyperpigmentation[malacards.org]
  • Showing of 50 80%-99% of people have these symptoms Absent septum pellucidum 0001331 Agenesis of corpus callosum 0001274 Aplasia/Hypoplasia of the skin Absent/small skin Absent/underdeveloped skin [ more ] 0008065 Generalized hyperpigmentation 0007440[rarediseases.info.nih.gov]
  • […] corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0001274 2 aplasia/hypoplasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008065 3 absent septum pellucidum 60 33 hallmark (90%) Very frequent (99-80%) HP:0001331 4 generalized hyperpigmentation[malacards.org]
  • AB - We describe an apparently new syndrome in 2 unrelated boys with aplasia cutis congenita, epibulbar dermoids, postnatally appearing areas of truncal hyperpigmentation, and macrocephaly.[scholars.opb.msu.edu]
  • Macrocephaly and areas of truncal hyperpigmentation were also present. Three further cases have since been described [Evers et al., 1994; Gardner and Viljoen, 1994].[updoc.site]
Epicanthal Folds
  • Symptoms - Toriello Lacassie Droste syndrome * Epibulbar dermoid * Increased skin pigmentation * Skin hypoplasia * Skin atrophy * Epicanthic folds Causes - Toriello Lacassie Droste syndrome Not supplied.[checkorphan.org]
  • folds eyelid coloboma strabismus (in some patients) more Skin Nails Hair Skin: epidermal nevus aplasia cutis congenita cutaneous hyperpigmentation (in some patients) Cardiovascular Heart: coarctation of the aorta Growth Other: growth failure Cardiovascular[malacards.org]
  • folds; [Nose]; Broad nasal bridge ; Thickening of the nasal alae; [Mouth]; Tented upper lip; Downturned mouth; High-arched palate; Thick gums; [Teeth]; Dental malocclusion; Irregular dentition RESPIRATORY: Respiratory difficulties due to tracheomalacia[findzebra.com]
  • folds Ocular findings Epibulbar dermoids Strabismus Aplasia cutis congenita Skin hyperpigmentation Skin tag Keloids Syringoma Ectodermal findings 3.17 36 Normal - 4.70 40.5 Normal - - 4.09 Normal 38 - - -[docslide.com.br]
Psychiatric Manifestation
  • Manifestations: hyperactive behavior, mild Head And Neck Eyes: proptosis astigmatism epicanthal folds eyelid coloboma strabismus (in some patients) more Skin Nails Hair Skin: epidermal nevus aplasia cutis congenita cutaneous hyperpigmentation (in some[malacards.org]
Broad Nasal Bridge
  • nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [[rarediseases.info.nih.gov]
  • nasal bridge (in some patients) Neurologic Central Nervous System: epilepsy developmental delay (in some patients) arachnoid cyst (in some patients) moderate learning difficulties Head And Neck Head: macrocephaly (in some patients) Neurologic Behavioral[malacards.org]
  • Clinical features Van Maldergem et al. (1992) described a mentally retarded girl with facial abnormalities (tele- and epicanthus, ptosis, broad nasal bridge , inverted W-shaped upper lip, everted lower lip, macrostomia, malformed ears), abnormal extremities[findzebra.com]
Shortened Nose
  • nose [ more ] 0003196 Short palm 0004279 Short palpebral fissure Short opening between the eyelids 0012745 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Telecanthus Corners of eye widely separated 0000506 5%-29% of people have these symptoms[rarediseases.info.nih.gov]
Low Nasal Root
  • nasal root [ more ] 0005280 Epispadias 0000039 Eyelid coloboma Cleft eyelid Notched eyelid [ more ] 0000625 Global developmental delay 0001263 Hypospadias 0000047 Opacification of the corneal stroma 0007759 Parietal bossing 0000242 Wide nasal bridge[rarediseases.info.nih.gov]
Nasal Bridge Depressed
  • bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Epispadias 0000039 Eyelid coloboma Cleft eyelid Notched eyelid [ more ] 0000625 Global developmental[rarediseases.info.nih.gov]
Frontal Bossing
  • She had mild frontal bossing. Ophthalmological investiga- tion showed, besides two tiny epibulbar dermoids in the right cornea, no abnormalities (Fig. 1).[docslide.com.br]
Onset in Infancy
  • […] in infancy FFDD type 1 7C Karl Adolph von Basedow PACNS Primary central nervous system torticollis Brauer syndrome FN abnormality Coma basedovicum vasculitis Froster-Iskenius-Waterson syndrome Hereditary symmetrical aplastic nevi type 10 Ehlers-Danlos[yumpu.com]
Hyperactivity
  • Neurologic Central Nervous System: epilepsy developmental delay (in some patients) arachnoid cyst (in some patients) moderate learning difficulties Head And Neck Head: macrocephaly (in some patients) Neurologic Behavioral Psychiatric Manifestations: hyperactive[malacards.org]
  • Anisometropia 0012803 Aplasia cutis congenita Absence of part of skin at birth 0001057 Autosomal dominant inheritance 0000006 Bladder exstrophy 0002836 Coarctation of aorta Narrowing of aorta Narrowing of the aorta [ more ] 0001680 Epidermal nevus 0010816 Hyperactivity[rarediseases.info.nih.gov]
  • […] uncle M Normal M Normal F Uneventful F Uneventful F Uneventful F ND M ND At term 3500 (90th p) At term 2890 (-2SD) At term 5100 (þ3SD) At term 2500 (10th p) At term 3530 (90th p) ND ND - Length (cm) - OFC (cm) Walk (months) Hypotonia Psychomotor delay Hyperactivity[docksci.com]
Learning Difficulties
  • difficulties Head And Neck Head: macrocephaly (in some patients) Neurologic Behavioral Psychiatric Manifestations: hyperactive behavior, mild Head And Neck Eyes: proptosis astigmatism epicanthal folds eyelid coloboma strabismus (in some patients) more[malacards.org]
  • In addition, his mother and brother are myopic, and his brother is known to have mild learning difficulties. K.H. was born at 38 weeks by elective lower segment cesarean section because of previous sections, following an unremarkable pregnancy.[updoc.site]

Treatment

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Prognosis - Toriello Lacassie Droste syndrome Not supplied. Treatment - Toriello Lacassie Droste syndrome Not supplied. Resources - Toriello Lacassie Droste syndrome Not supplied.[checkorphan.org]
  • It additionally serves as a teaching point to emphasize the importance of pursuing a definite diagnosis when faced with such a multisystem illness, to counsel patients and their parents regarding long term morbidity and overall prognosis.[qscience.com]
  • […] symptoms, causes, diagnosis, and treatment information for Toriello-Carey syndrome (Corpus callosum agenesis - blepharophimosis - Robin sequence) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and prognosis[keyword-suggest-tool.com]

Etiology

  • Orphanet: Toriello Carey syndrome The etiology of Toriello-Carey syndrome is not fully understood, but there is evidence that this is a heterogeneous condition, with chromosome anomalies identified in approximately 20%, and at least two candidate genes[keyword-suggest-tool.com]
  • The etiology of ACC varies, and there are likely several causes for its development. ACC can be located anywhere on the body. Its clinical appearance and location can alert the clinician to other potential abnormalities and associations.[nature.com]

Epidemiology

Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology and treatment . Yale J Biol Med 1993; 66 (3): 143–155. 54. Nagore E , Sánchez-Motilla JM , Febrer MI , Cremades B , Aleu M , Aliaga A . Radius hypoplasia, radial palsy, and aplasia cutis due to amniotic band syndrome .[nature.com]

Prevention

  • Prevention - Toriello Lacassie Droste syndrome Not supplied. Diagnosis - Toriello Lacassie Droste syndrome Not supplied. Prognosis - Toriello Lacassie Droste syndrome Not supplied. Treatment - Toriello Lacassie Droste syndrome Not supplied.[checkorphan.org]
  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • This early fusion prevents the skull from growing normally and affects the shape of the head and face. Beare-Stevenson cutis gyrata syndrome is caused by mutations in the FGFR2 gene.[findzebra.com]
  • Toriello-Carey syndrome symptoms, causes, diagnosis, and treatment information for Toriello-Carey syndrome (Corpus callosum agenesis - blepharophimosis - Robin sequence) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention[keyword-suggest-tool.com]

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