View a developmental anomaly category

Developmental anomaly categoryinformation for Malformation Syndrome (malformative syndrome)

Description: A syndrome is a pattern of multiple anomalies which implies a single cause(trisomies, e,g; Down syndrome), or when the component of a given pattern of anomalies are known or thought to be pathogenitically related (malformative syndrome e,g; Goledhar syndrom= malformed ear, bilateral cleft lip and palate, micrognatia, agenesis of thumb, cardiac malformation).


Developmental anomalies associated with this developmental anomaly category :

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            [id] => 22
            [name] => Malformation Syndrome (malformative syndrome)
            [description] => A syndrome is a pattern of multiple anomalies which implies a single cause(trisomies, e,g; Down syndrome), or when the component of a given pattern of anomalies are known or thought to be pathogenitically related (malformative syndrome e,g; Goledhar syndrom= malformed ear, bilateral cleft lip and palate, micrognatia, agenesis of thumb, cardiac malformation).
        )

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                    [id] => 29
                    [name] => Dandy-Walker malformation
                    [description] => Dandy-Walker malformation is characterized by agenesis or hypoplasi of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa and Luschka-Magendie Foramina atresia.
                    [author_id] => 1
                    [topo_code] => 62
                    [category_code] => 22
                    [system_code] => 50
                    [parent_da_code] => 0
                    [adicap_ref] => 
                    [humpath_ref] => 11624
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                    [ICD10_ref] => Q03.1 
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                    [created] => 2008-02-15 00:00:00
                    [modified] => 2008-12-31 18:23:17
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
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            [1] => Array
                (
                    [id] => 158
                    [name] => Cornélia de Lange syndrome
                    [description] => Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, growth retardation (prenatal onset; <5th centile throughout life), hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly. Craniofacial features include synophrys, arched eyebrows, long eyelashes, small upturned nose, small widely spaced teeth, and microcephaly. IQ ranges from below 30 to 102 with an average of 53. Many individuals demonstrate autistic and self-destructive tendencies. Frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia. 

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                    [created] => 2008-03-28 00:00:00
                    [modified] => 2008-12-16 13:52:06
                    [modified_by] => 3
                    [test] => 0
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            [2] => Array
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                    [id] => 227
                    [name] => Otopaladigital syndrome, Type II;
                    [description] => OPD2 is an uncommon X-linked condition characterized by dysmorphic facies, a skeletal dysplasia affecting the axial and appendicular skeleton and extraskeletal anomalies including malformations of the brain, heart, genitourinary system, and intestines.
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                    [topo_code] => 1
                    [category_code] => 22
                    [system_code] => 1
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                    [humpath_ref] => 13725
                    [omim_ref] => 304120
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                    [created] => 2008-05-15 00:00:00
                    [modified] => 2008-12-17 15:40:27
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
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            [3] => Array
                (
                    [id] => 452
                    [name] => Popliteal pterygium syndrome
                    [description] => Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia. The syndrome goes by a number of names including the popliteal web syndrome and, more inclusively, the facio-genito-popliteal syndrome. The term PPS was coined by Gorlin et al. in 1968 on the basis of the most unusual anomaly, the popliteal pterygium (a web behind the knee).



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                    [created] => 2008-07-23 22:46:08
                    [modified] => 2008-12-15 14:07:05
                    [modified_by] => 3
                    [test] => 0
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            [4] => Array
                (
                    [id] => 459
                    [name] => Multiple pterygium syndrome
                    [description] => Multiple pterygium syndrome is a very rare genetic disorder characterized by short stature, abnormal facies and webbing of the neck, antecubital, digital, popliteal, and intercural areas. Joint contractures, vertebral fusion defects, and rocker-bottom feet are usually associated."

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                    [created] => 2008-07-24 21:58:38
                    [modified] => 2008-12-22 17:18:05
                    [modified_by] => 3
                    [test] => 0
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            [5] => Array
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                    [id] => 621
                    [name] => Hoyeraal-Hreidarsson syndrome
                    [description] => Hoyeraal-Hreidarsson syndrome is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation. The disorder has been found to be caused by mutation in the DKC1 (300126) gene. Mutation in the same gene causes X-linked dyskeratosis congenita (DKC; 305000).
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                    [omim_ref] => 300240
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                    [created] => 2008-08-26 15:39:59
                    [modified] => 2008-12-15 16:38:34
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
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            [6] => Array
                (
                    [id] => 655
                    [name] => Fraser syndrome
                    [description] => Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. The inheritance is autosomal recessive.
Fraser syndrome can be caused by mutation in the FRAS1 gene  or in the FREM2 gene .

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                    [omim_ref] => 219000
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                    [created] => 2008-08-29 19:56:25
                    [modified] => 2008-12-15 19:24:38
                    [modified_by] => 3
                    [test] => 0
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            [7] => Array
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                    [id] => 809
                    [name] => Tetra-amelia syndrome
                    [description] => Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. ("Tetra" is the Greek word for "four," and "amelia" refers to the failure of an arm or leg to develop before birth.) This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth.
tetra-amelia is caused by mutation in the WNT3 gene (MIM=165330).
There is also an X-linked tetra-amelia (MIM=301090).




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                    [created] => 2008-12-16 20:55:48
                    [modified] => 2008-12-17 15:36:36
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