OPITZ-KAVEGGIA SYNDROME
General Information (adopted from Orphanet):
Synonyms, Signs: |
MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM KELLER SYNDROME FG SYNDROME FG SYNDROME 1 FGS1 FGS OKS |
Number of Symptoms | 81 |
OrphanetNr: | |
OMIM Id: |
305450
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
X-linked recessive inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0000047) | Hypospadias | 250 / 7739 | ||||
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(HPO:0000189) | Narrow palate | 45 / 7739 | ||||
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(HPO:0011220) | Prominent forehead | 137 / 7739 | ||||
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(HPO:0000260) | Wide anterior fontanel | 55 / 7739 | ||||
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(HPO:0001476) | Delayed closure of the anterior fontanelle | 23 / 7739 | ||||
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(HPO:0000448) | Prominent nose | 56 / 7739 | ||||
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(HPO:0001739) | Abnormality of the nasopharynx | 16 / 7739 | ||||
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(HPO:0000453) | Choanal atresia | 76 / 7739 | ||||
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(HPO:0000154) | Wide mouth | 137 / 7739 | ||||
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(HPO:0000256) | Macrocephaly | 298 / 7739 | ||||
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(HPO:0000343) | Long philtrum | 262 / 7739 | ||||
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(HPO:0000678) | Dental crowding | 65 / 7739 | ||||
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(HPO:0002007) | Frontal bossing | 366 / 7739 | ||||
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(HPO:0000204) | Cleft upper lip | 193 / 7739 | ||||
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(HPO:0000179) | Thick lower lip vermilion | 72 / 7739 | ||||
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(HPO:0005490) | Postnatal macrocephaly | 3 / 7739 | ||||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000286) | Epicanthus | 371 / 7739 | ||||
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
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(HPO:0000494) | Downslanted palpebral fissures | 328 / 7739 | ||||
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(HPO:0001357) | Plagiocephaly | 106 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0008527) | Congenital sensorineural hearing impairment | 165 / 7739 | ||||
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(HPO:0008625) | Severe sensorineural hearing impairment | 150 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0011266) | Microtia, first degree | 4 / 7739 | ||||
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(HPO:0008551) | Microtia | 98 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0007018) | Attention deficit hyperactivity disorder | 56 / 7739 | ||||
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(HPO:0001270) | Motor delay | 322 / 7739 | ||||
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(HPO:0000752) | Hyperactivity | 140 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0000766) | Abnormality of the sternum | 31 / 7739 | ||||
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(HPO:0000960) | Sacral dimple | 29 / 7739 | ||||
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(HPO:0012385) | Camptodactyly | 113 / 7739 | ||||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0001171) | Split hand | 72 / 7739 | ||||
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(HPO:0009473) | Joint contracture of the hand | 84 / 7739 | ||||
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(HPO:0009466) | Radial deviation of finger | 101 / 7739 | ||||
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(HPO:0001212) | Prominent fingertip pads | 12 / 7739 | ||||
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(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
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(HPO:0002938) | Lumbar hyperlordosis | 73 / 7739 | ||||
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(HPO:0011304) | Broad thumb | 39 / 7739 | ||||
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(HPO:0002828) | Multiple joint contractures | 16 / 7739 | ||||
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(HPO:0010055) | Broad hallux | 56 / 7739 | ||||
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(HPO:0000954) | Single transverse palmar crease | 162 / 7739 | ||||
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(HPO:0005833) | Joint swelling onset late infancy | 2 / 7739 | ||||
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(HPO:0002021) | Pyloric stenosis | 51 / 7739 | ||||
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(HPO:0002025) | Anal stenosis | 23 / 7739 | ||||
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(HPO:0001537) | Umbilical hernia | 206 / 7739 | ||||
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(HPO:0002566) | Intestinal malrotation | 89 / 7739 | ||||
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(HPO:0001545) | Anteriorly placed anus | 55 / 7739 | ||||
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(HPO:0002023) | Anal atresia | 135 / 7739 | ||||
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(HPO:0000023) | Inguinal hernia | 181 / 7739 | ||||
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(HPO:0002019) | Constipation | 194 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0010609) | Skin tags | 12 / 7739 | ||||
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(HPO:0002236) | Frontal upsweep of hair | 8 / 7739 | ||||
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(HPO:0009762) | Facial wrinkling | 3 / 7739 | ||||
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(HPO:0008070) | Sparse hair | 94 / 7739 | ||||
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(HPO:0002213) | Fine hair | 77 / 7739 | ||||
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(HPO:0001627) | Abnormal heart morphology | 19 / 7739 | ||||
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(HPO:0001620) | High pitched voice | 32 / 7739 | ||||
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(HPO:0001319) | Neonatal hypotonia | 101 / 7739 | ||||
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(HPO:0001338) | Partial agenesis of the corpus callosum | 22 / 7739 | ||||
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(OMIM) | Friendly, sociable personality | 1 / 7739 | ||||
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(OMIM) | Joint hyperlaxity | 5 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(HPO:0030084) | Clinodactyly | 90 / 7739 | ||||
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(MedDRA:10058668) | Clinodactyly | 91 / 7739 | ||||
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(HPO:0002282) | Heterotopia | 21 / 7739 | ||||
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(OMIM) | Perianal skin tags | 1 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
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(OMIM) | Frontal hair upsweep | 2 / 7739 | ||||
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(OMIM) | Broad halluces | 12 / 7739 | ||||
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(OMIM) | Medial eyebrow flare | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Opitz-Kaveggia syndrome (OKS) is an X-linked recessive mental retardation syndrome characterized by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces. Most have hypotonia, constipation, and partial ... |
Clinical Description OMIM |
Opitz and Kaveggia (1974) described 3 brothers and 2 of their male first cousins who were affected with mental retardation, disproportionately large head, imperforate anus, and congenital hypotonia. Partial agenesis of the corpus callosum was proved in one ... |
Molecular genetics OMIM |
Insights into the pathogenesis of Opitz-Kaveggia syndrome were gained in the course of evaluating candidate genes that influence thyroid function (Risheg et al., 2007). One such candidate gene, located at Xq13, is MED12 (300188), which encodes a thyroid ... |