| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Implantation of prosthetic device of lower limb |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
2 |
| Implantation of prosthetic device of lower leg |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
2 |
| Biceps tunnel cineplasty |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
1 |
| Implantation of kineplastic prosthesis for limb |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
2 |
| Implantation of cineplastic prosthesis of upper arm |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
2 |
| A rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
3 |
| A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
4 |
| Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
2 |
| Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
5 |
| Distichiasis-lymphedema syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
2 |
| Gangrene of limb due to atherosclerosis of artery of limb (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Biceps tunnel cineplasty |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
4 |
| Injected limb mobility decreased |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
3 |
| Adams-Oliver syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
2 |
| Erythrocyanosis |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Erythrocyanosis with nodules (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
6 |
| Light-cured polymer limb orthosis (physical object) |
This attribute represents the site where the device is intended to reside in or on the body. |
True |
Limb structure |
Inferred relationship |
Some |
|
| Superficial injuries involving multiple regions of upper limb(s) with lower limb(s) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Acrodynia due to mercury poisoning |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
5 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by a large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
3 |
| A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
2 |
| A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
5 |
| Myocutaneous flap to extremity |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
3 |
| A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
3 |
| A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
3 |
| A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and femoro gluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
4 |
| A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
4 |
| Reconstruction of extremity using flap |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Attachment of pedicle graft to extremity |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
6 |
| A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
4 |
| A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
6 |
| Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis) It can be hereditary or not and be congenital or late onset. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Lymphedema praecox |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Primary lymphedema tardum (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Hereditary lymphedema |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
2 |
| A rare primary lymphoedema characterised by extensive, multisegmental lymphoedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal naevi and capillary malformations have also been reported. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
3 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
4 |
| German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
4 |
| A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
2 |
| Emberger syndrome |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
2 |
| Hereditary lymphedema type I (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Hereditary lymphedema type II (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Hereditary lymphedema and yellow nails (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Cholestasis-edema syndrome, Norwegian type |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Hennekam lymphangiectasia-lymphedema syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Primary lymphedema with systemic and visceral involvement |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Primary lymphoedema with systemic involvement |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Primary lymphoedema with visceral involvement |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Primary lymphedema due to syndrome (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
6 |
| Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| A rare genetic primary lymphoedema characterised by unilateral or bilateral lower limb lymphoedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
3 |
| PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Aspiration of limb using ultrasonographic guidance (procedure) |
Procedure site - Indirect (attribute) |
False |
Limb structure |
Inferred relationship |
Some |
1 |
| Fluoroscopy guided drainage of limb |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Ultrasonography guided drainage of limb |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
2 |
| A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Replacement of prosthesis of extremity, bioelectric or cineplastic |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Aspiration of limb using ultrasonographic guidance (procedure) |
Procedure site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
3 |
| Congenital dysplasia of limb (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Gunshot wound of limb (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Chronic primary musculoskeletal limb pain |
Finding site |
False |
Limb structure |
Inferred relationship |
Some |
2 |
| A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
2 |
| Division of constricting band on limb |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
2 |
| Release of constriction ring |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Release of constriction ring |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
2 |
| Division of constricting band on limb |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
4 |
| A rare multiple congenital anomalies syndrome with characteristics of several of the typical clinical features of Bohring Opitz syndrome such as intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a Bohring Opitz syndrome posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are very rarely described. |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Lacunar ataxic hemiparesis of right dominant side |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
4 |
| Lacunar ataxic hemiparesis of left dominant side |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Lacunar ataxic hemiparesis of left nondominant side |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
4 |
| Lacunar ataxic hemiparesis of right nondominant side |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
4 |
| Cineplastic amputation with cineplastic prosthesis of extremity |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Cineplastic amputation |
Procedure site - Direct (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Interstitial brachytherapy to limb using temporary implant (procedure) |
Procedure site - Indirect (attribute) |
True |
Limb structure |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia). |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
2 |
| Aplasia of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Dysmetria of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Impaired tactile sensation of limb |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
2 |
| Tremor of limb (finding) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Lethal congenital disproportionate short limbed short stature (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
| Thanatophoric dysplasia |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
3 |
| Atelosteogenesis type 2 |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
5 |
| Thanatophoric dysplasia, type 1 (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
3 |
| Thanatophoric dysplasia, type 2 (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
3 |
| Congenital hypoplasia of limb (disorder) |
Finding site |
True |
Limb structure |
Inferred relationship |
Some |
1 |
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