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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandChromosome Disorders (D025063)
Parent Node:
expandThrombocytopenia (D013921)
..Starting node
..expandJacobsen Distal 11q Deletion Syndrome (D054868)

       Child Nodes:
........expandThrombocytopenia Paris-Trousseau type (C538617)



 Sister Nodes: 
..expandAbsent radii and thrombocytopenia (C536940)
..expandAcquired pure megakaryocytic aplasia (C538176)
..expandCongenital amegakaryocytic thrombocytopenia (C535982)
..expandCongenital disorder of glycosylation type 1X (C535751)
..expandDK Phocomelia Syndrome (C565618)
..expandDyserythropoietic Anemia with Thrombocytopenia (C564525)
..expandEvan's syndrome (C536380)
..expandFORSYTHE-WAKELING SYNDROME (OMIM:613606)
..expandGardner Morrisson Abbot syndrome (C535643)
..expandGiant Platelet Syndrome with Thrombocytopenia (C564237)
..expandGlycoprotein IA Deficiency (C566000)
..expandJacobsen Distal 11q Deletion Syndrome (D054868) Child1
..expandKasabach-Merritt Syndrome (D059885) Child1
..expandMacrothrombocytopenia progressive deafness (C537831)
..expandMacrothrombocytopenia, Autosomal Dominant, Tubb1-Related (C567747)
..expandMacrothrombocytopenia, X-Linked (C564526)
..expandMYH9-Related Disorders (C535507)
..expandOculootoradial syndrome (C535544)
..expandOsteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..expandRadioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..expandSpastic Paraplegia And Evans Syndrome (C566652)
..expandTetraphocomelia-Thrombocytopenia Syndrome (C564771)
..expandThrombasthenia-Thrombocytopenia, Hereditary (C566060)
..expandThrombocytopenia 1 (C564052)
..expandTHROMBOCYTOPENIA 2 (OMIM:188000)
..expandThrombocytopenia 3 (C567487)
..expandThrombocytopenia 4 (C567438)
..expandThrombocytopenia absent ulnar syndrome (C536944)
..expandThrombocytopenia chromosome breakage (C536519)
..expandThrombocytopenia Robin sequence (C536898)
..expandThrombocytopenia with Elevated Serum Iga and Renal Disease (C564051)
..expandThrombocytopenia, cyclic (C536899)
..expandThrombocytopenia, Neonatal Alloimmune (D054098)
..expandThrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
..expandThrombocytopenia, X-Linked, Intermittent (C564053)
..expandTHROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
..expandThrombotic Microangiopathies (D057049) Child9
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5936
Name:Jacobsen Distal 11q Deletion Syndrome
Definition:A clinically recognized malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Most patients have a THROMBOCYTOPENIA and platelet dysfunction known also as Paris-Trousseau type thrombocytopenia.
Alternative IDs:OMIM:147791
ParentIDs:MESH:D013921|MESH:D025063
TreeNumbers:C15.378.140.855.440 |C16.131.260.440 |C16.320.180.440
Synonyms:11q23 Deletion Disorder |11q Deletion Disorder |11q Deletion Syndrome |11q- Deletion Syndrome |11q Terminal Deletion Disorder |Chromosome 11q Deletion Syndrome |Deletion Disorder, 11q |Deletion Disorder, 11q23 |Disorder, 11q23 Deletion |Disorder, 11q Deletion |Jac
Slim Mappings:Blood disease|Congenital abnormality|Genetic disease (inborn)
Reference: MedGen: D054868
MeSH: D054868
OMIM: 147791;

Genes: AF8T;
Phenotypes
1 HP:0000499Abnormal eyelash morphology
2 HP:0000646Amblyopia
3 HP:0001734Annular pancreas
4 HP:0000463Anteverted nares
5 HP:0001631Atrial septal defect
6 HP:0001156Brachydactyly
7 HP:0000567Chorioretinal coloboma
8 HP:0004209Clinodactyly of the 5th finger
9 HP:0000060Clitoral hypoplasia
10 HP:0000028Cryptorchidism
11 HP:0005280Depressed nasal bridge
12 HP:0000286Epicanthus
13 HP:0000625Eyelid coloboma
14 HP:0001508Failure to thrive
15 HP:0005469Flat occiput
16 HP:0001371Flexion contracture
17 HP:0001290Generalized hypotonia
18 HP:0001360Holoprosencephaly
19 HP:0000238Hydrocephalus
20 HP:0000316Hypertelorism
21 HP:0000047Hypospadias
22 HP:0008947Infantile muscular hypotonia
23 HP:0001249Intellectual disability
24 HP:0001511Intrauterine growth retardation
25 HP:0000612Iris coloboma
26 HP:0000066Labial hypoplasia
27 HP:0000369Low-set ears
28 HP:0000256Macrocephaly
29 HP:0001104Macular hypoplasia
30 HP:0000252Microcephaly
31 HP:0000482Microcornea
32 HP:0000347Micrognathia
33 HP:0000568Microphthalmia
34 HP:0000921Missing ribs
35 HP:0000579Nasolacrimal duct obstruction
36 HP:0000648Optic atrophy
37 HP:0000767Pectus excavatum
38 HP:0000508Ptosis
39 HP:0002021Pyloric stenosis
40 HP:0002205Recurrent respiratory infections
41 HP:0000470Short neck
42 HP:0003196Short nose
43 HP:0001257Spasticity
44 HP:0003745Sporadic
45 HP:0000486Strabismus
46 HP:0000506Telecanthus
47 HP:0001873Thrombocytopenia
48 HP:0000243Trigonocephaly
49 HP:0010806U-Shaped upper lip vermilion
50 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants