High palate, and Frontal bossing

Diseases related with High palate and Frontal bossing

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Other less relevant matches:

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

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

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

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

Top 5 symptoms//phenotypes associated to High palate and Frontal bossing

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Frontal bossing. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Short nose Seizures Wide nasal bridge Craniosynostosis Epicanthus Midface retrusion Arachnodactyly Prominent forehead Low-set ears Anteverted nares Upslanted palpebral fissure High forehead Proptosis Pectus excavatum Hydrocephalus Motor delay Ventriculomegaly Kyphosis Microcephaly Long foot Muscular hypotonia Scoliosis Mandibular prognathia

Rare Symptoms - Less than 30% cases

Cerebellar atrophy Mitral valve prolapse Long philtrum Microphthalmia Sparse hair Hypoplasia of the corpus callosum Bulbous nose Inguinal hernia Hernia Adducted thumb Strabismus Delayed speech and language development Cognitive impairment Tall stature Large hands Disproportionate tall stature Long fingers Hypotelorism Brachycephaly Broad forehead Clinodactyly of the 5th finger Protruding ear Macrotia Posteriorly rotated ears Overgrowth Scaphocephaly Stereotypy Agenesis of corpus callosum Narrow mouth Slender build Triangular face Microretrognathia Long face Prominent nasal bridge Turricephaly Blue sclerae Retrognathia Short stature Communicating hydrocephalus Attention deficit hyperactivity disorder Abnormal cerebellum morphology Wide nose High myopia Lumbar hyperlordosis Long neck Autism Megalencephaly Expressive language delay Metopic synostosis Hyperlordosis Micropenis Hyperactivity Behavioral abnormality Sparse eyebrow Talipes Joint laxity Congenital hip dislocation Hypoplastic nasal bridge Lissencephaly Juvenile myelomonocytic leukemia Atrial septal dilatation Dysplastic pulmonary valve Ataxia Myopia Pointed chin Thick corpus callosum Malar flattening Absent speech Cerebellar hypoplasia Hypoplasia of penis Cerebral cortical atrophy Gait ataxia Kyphoscoliosis Pes planus Difficulty walking Blepharophimosis Severe expressive language delay Myalgia Talipes equinovarus Myopathy Cerebral atrophy Hyperextensible skin Sagittal craniosynostosis Arthralgia Delayed gross motor development Telecanthus Bilateral talipes equinovarus Joint dislocation Dental crowding Camptodactyly Mitral regurgitation Generalized muscle weakness Bruising susceptibility Scarring Patent foramen ovale Fragile skin Micrognathia Hypoplasia of the musculature Joint hypermobility Short philtrum Short neck Small for gestational age Astigmatism Failure to thrive Growth delay Sleep disturbance Pain Narrow forehead Low posterior hairline Facial hypotonia Short palpebral fissure Exotropia Obsessive-compulsive behavior Overweight Muscle weakness Myeloproliferative disorder Panhypopituitarism Cystic hygroma Metabolic acidosis Fractures of the long bones Cataract Feeding difficulties Depressed nasal bridge Dystonia Acidosis Lactic acidosis Hepatic failure Delayed myelination Lambdoidal craniosynostosis Underdeveloped nasal alae Aciduria Postnatal microcephaly Infantile muscular hypotonia Tented upper lip vermilion Clinodactyly Pneumonia Hepatosplenomegaly Narrow iliac wings Decreased skull ossification Aggressive behavior Abnormality of the sternum Intellectual disability, severe Intellectual disability, mild Pectus carinatum Narrow chest Hypoplasia of the maxilla Narrow face Growth abnormality Nasal speech Abnormality of the musculature Coronal craniosynostosis Osteopenia Postnatal growth retardation Platyspondyly Recurrent fractures Oligohydramnios Wormian bones Reduced bone mineral density High pitched voice Thin ribs Anxiety Broad nasal tip Pterygium Ventricular septal defect Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Ptosis Atrial septal defect Single median maxillary incisor Patent ductus arteriosus Polyhydramnios Hypertrophic cardiomyopathy Leukemia Dolichocephaly Pulmonic stenosis Webbed neck Deep philtrum Midline defect of the nose Median cleft lip and palate Recurrent pneumonia Prominent nose Finger clinodactyly Brachydactyly Thin upper lip vermilion Cleft lip Smooth philtrum Oral cleft Iris coloboma Highly arched eyebrow Dental malocclusion Bilateral microphthalmos Omphalocele Holoprosencephaly Flat occiput Partial agenesis of the corpus callosum Median cleft lip Bilateral cleft lip Depressed nasal tip Bilateral cleft lip and palate Broad face Large for gestational age


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