| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| Family history of microcephaly |
Associated finding |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
1 |
| Secondary microcephaly |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| Fetal microcephaly (disorder) |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| Child HC < 0.4th centile |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| Child HC = 0.4th centile |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| Child HC 0.5th - 1.9th centile |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| Child HC = 2nd centile |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self-injury and unexplained crying episodes. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| Christianson syndrome |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare pervasive developmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive, and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and gray matter, but no pontine involvement. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A rare genetic neurometabolic disease characterised by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anaemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
| A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others. |
Is a |
True |
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. |
Inferred relationship |
Some |
|
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