Microcephaly, and Obesity

Diseases related with Microcephaly and Obesity

In the following list you will find some of the most common rare diseases related to Microcephaly and Obesity that can help you solving undiagnosed cases.

Top matches:

BBS20 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 20; BBS20

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY

Isolated growth hormone deficiency type V is characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary (Argente et al., 2014).

ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA Is also known as congenital ighd type ia|congenital isolated growth hormone deficiency type ia|congenital isolated gh deficiency type ia

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Frontal bossing
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA

Other less relevant matches:

Medium match MORM SYNDROME

MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.

MORM SYNDROME Is also known as morm syndrome|mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome|intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cataract
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MORM SYNDROME

X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.

X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME Is also known as mental retardation, x-linked 35|mrx35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.

Related symptoms:

  • Seizures
  • Microcephaly
  • Ventriculomegaly
  • Headache
  • Obesity


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA

Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.

PEDIATRIC HEPATOCELLULAR CARCINOMA Is also known as liver cancer|lcc|childhood-onset hcc|hcc|liver cell carcinoma|hepatoma|cancer, hepatocellular|childhood-onset hepatocellular carcinoma|pediatric hcc

Related symptoms:

  • Microcephaly
  • Neoplasm
  • Cryptorchidism
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEDIATRIC HEPATOCELLULAR CARCINOMA

Top 5 symptoms//phenotypes associated to Microcephaly and Obesity

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Truncal obesity Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and Obesity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Intellectual disability, moderate Postnatal growth retardation Short stature

Rare Symptoms - Less than 30% cases

Prominent nose Wide nasal bridge Hypertelorism Ventriculomegaly Generalized hypotonia Short philtrum Mild microcephaly Overweight Abnormal facial shape Intellectual disability, severe Motor delay Hypotelorism Polydactyly Intrauterine growth retardation Smooth philtrum Delayed skeletal maturation Hypoplasia of the corpus callosum Progressive microcephaly Unilateral cleft lip Bruxism Abnormality of the carpal bones Brachycephaly Slender finger Severe muscular hypotonia Low anterior hairline Lumbar scoliosis Postnatal microcephaly Developmental regression Hyperactivity Febrile seizures Neonatal hypotonia Cleft lip Downturned corners of mouth Cleft upper lip Short neck Synophrys Abnormality of the cerebral white matter Round face Abdominal pain Abnormality of the cerebellar vermis Thrombocytosis Viral hepatitis Hepatic necrosis Portal vein thrombosis Epigastric pain Embryonal neoplasm Giant cell hepatitis Elevated alpha-fetoprotein Chronic infection Chronic hepatitis Hepatoblastoma Micronodular cirrhosis Hypertyrosinemia Neoplasm of the liver Hepatocellular carcinoma Horizontal eyebrow Hepatic fibrosis Type II diabetes mellitus Hepatitis Hepatic steatosis Cirrhosis Abnormality of the liver Carcinoma Central hypothyroidism Vomiting Fatigue Hepatomegaly Cryptorchidism Neoplasm Madelung deformity Abnormal myelination Hypoplasia of the uterus Visual impairment Cervical cord compression Microphallus Gliosis Cerebellar hypoplasia Behavioral abnormality Gait disturbance Tremor Childhood-onset truncal obesity Retinal dystrophy Reduced visual acuity Micropenis Cataract Downslanted palpebral fissures Severe postnatal growth retardation Oligomenorrhea Growth hormone deficiency Frontal bossing Absence seizures Brain atrophy Cerebral atrophy Hypertonia Failure to thrive Hypogonadism Rod-cone dystrophy Increased body mass index Malar flattening Primary amenorrhea Generalized muscle weakness Amenorrhea Hip dysplasia Severe global developmental delay Microtia Hypothyroidism Severe short stature Clinodactyly Hypermagnesiuria Moderate global developmental delay Hypomagnesemia Hyperactive deep tendon reflexes Vertigo Thin upper lip vermilion Poor speech Autistic behavior Headache Long eyebrows Broad eyebrow Polyphagia Short chin Pointed chin Wide nose Long face Dolichocephaly Aggressive behavior Subacute progressive viral hepatitis


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