Frontal bossing, and Increased body weight

Diseases related with Frontal bossing and Increased body weight

In the following list you will find some of the most common rare diseases related to Frontal bossing and Increased body weight that can help you solving undiagnosed cases.

Top matches:

IGHD type IV is an autosomal recessive disorder characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I (IGF1 ) and IGF-binding protein-3 (IGFBP3 ) concentrations, and a good response to growth hormone treatment (summary by Alatzoglou et al., 2014).For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see {262400}.

ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB Is also known as ighd1b, formerly|congenital isolated growth hormone deficiency type ib|congenital ighd type ib|congenital isolated gh deficiency type ib|dwarfism of sindh|isolated growth hormone deficiency, type ib, formerly

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Obesity
  • Delayed skeletal maturation


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB

Patients with IGHD type IB are characterized by low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to GH therapy.See entry {262400} for a summary of the different types of IGHD.

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B Is also known as dwarfism of sindh|ighd ib

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH OMIM MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B

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:

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Top 5 symptoms//phenotypes associated to Frontal bossing and Increased body weight

Symptoms // Phenotype % cases
Obesity Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Increased body weight. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Global developmental delay Macrocephaly Growth hormone deficiency Muscular hypotonia Severe short stature Low-set ears Delayed skeletal maturation Seizures Truncal obesity

Rare Symptoms - Less than 30% cases

Small for gestational age Large for gestational age Molar tooth sign on MRI Failure to thrive Scoliosis Downslanted palpebral fissures Short nose Micropenis Short neck Pectus excavatum Pectus carinatum Wide nose Cerebellar atrophy Inguinal hernia Agenesis of corpus callosum Tall stature Motor delay Generalized hypotonia Midface retrusion Microcephaly Sparse hair Broad forehead Attention deficit hyperactivity disorder Proportionate short stature Ataxia Nystagmus Depressed nasal bridge Large hands Wide nasal bridge Autism High palate Hypoplasia of penis High forehead Narrow mouth Overgrowth Hyperactivity Long foot Prominent forehead Obsessive-compulsive behavior Narrow forehead Hypotelorism Low posterior hairline Short palpebral fissure Stereotypy Exotropia Long fingers Clinodactyly of the 5th finger Overweight Turricephaly Congenital hip dislocation Ventriculomegaly Hypoplasia of the corpus callosum Behavioral abnormality Hernia Pointed chin Hypoglycemia Lissencephaly Sensory axonal neuropathy Pigmentary retinopathy Sparse scalp hair Clumsiness Long eyelashes Gynecomastia Horizontal nystagmus Hypogonadotrophic hypogonadism Chorioretinal atrophy Thick eyebrow Retinal atrophy Progressive gait ataxia Recurrent hypoglycemia Titubation Alopecia areata Choroideremia Long eyebrows Progressive cerebellar ataxia Distal amyotrophy Disproportionate tall stature Gait ataxia Muscle weakness Cryptorchidism Cognitive impairment Peripheral neuropathy Alopecia Rod-cone dystrophy Hypogonadism Hypothyroidism Retinal degeneration Bulbous nose Pallor Distal muscle weakness Spastic paraplegia Delayed puberty Paraplegia Peripheral axonal neuropathy Sleep disturbance Abnormality of epiphysis morphology Arachnodactyly Oculomotor apraxia Immunodeficiency Long philtrum Fever Neoplasm Anodontia Bipolar affective disorder Oligodontia Psychosis Tapered finger Everted lower lip vermilion Depressivity Abnormality of cardiovascular system morphology Kyphosis Elongated superior cerebellar peduncle Cerebellar vermis hypoplasia Pneumonia Apraxia Abnormal cerebellum morphology Postaxial polydactyly Polymicrogyria Polydactyly Intellectual disability, mild Dysarthria Mild microcephaly Severe postnatal growth retardation Oligomenorrhea Postnatal growth retardation Abdominal obesity Precocious atherosclerosis Atherosclerosis Recurrent infections Hepatosplenomegaly Astigmatism Osteoarthritis Short philtrum Blepharophimosis Craniosynostosis Proptosis Brachycephaly Upslanted palpebral fissure Epicanthus Strabismus Micrognathia Enlarged joints Multiple epiphyseal dysplasia Epiphyseal dysplasia Joint dislocation Lymphedema Brain atrophy Autistic behavior Severe combined immunodeficiency Lymphadenopathy Decreased antibody level in blood Pancytopenia Lymphopenia Combined immunodeficiency Biparietal narrowing Increased head circumference Genu valgum Postnatal macrocephaly Malar flattening Clinodactyly Polyhydramnios Finger syndactyly Hip dislocation Central heterochromia


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