Downslanted palpebral fissures, and High forehead

Diseases related with Downslanted palpebral fissures and High forehead

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and High forehead that can help you solving undiagnosed cases.

Top matches:

Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 2; SOTOS2

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

Other less relevant matches:

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

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

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION Is also known as familial adenomatous polyposis due to del(5)(q22.2)|colorectal adenomatous polyposis due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|fap due to monosomy 5q22.2

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

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

Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and High forehead

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Downslanted palpebral fissures and High forehead. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism High palate Ptosis Seizures Broad forehead Hypoplasia of the corpus callosum Short stature Motor delay Short neck Depressed nasal bridge Sparse hair Abnormal facial shape Muscular hypotonia Pulmonic stenosis Epicanthus

Rare Symptoms - Less than 30% cases

Feeding difficulties Overgrowth Short nose Atrial septal defect Microcephaly Hearing impairment Relative macrocephaly Anteverted nares Cataract Broad neck Frontal bossing Ventricular septal defect Hyperactivity Sensorineural hearing impairment Behavioral abnormality Cardiomyopathy Growth delay Myopia Epileptic encephalopathy Focal-onset seizure Tented upper lip vermilion Curly hair Posteriorly rotated ears Hyperkeratosis Scoliosis Nystagmus Delayed speech and language development Ventriculomegaly Pectus excavatum EEG abnormality Narrow mouth Bilateral ptosis Encephalopathy Wide nasal bridge Juvenile myelomonocytic leukemia Cerebellar atrophy Failure to thrive Hemangioma Intellectual disability, mild Sparse eyebrow Long eyebrows Asymmetry of the thorax Cafe-au-lait spot Growth hormone deficiency Edema Absent eyebrow Arthropathy Neuropathic arthropathy Webbed neck Cryptorchidism Leukemia Hypertrophic cardiomyopathy Abnormal heart morphology Hypoplasia of penis Midface retrusion Intellectual disability, progressive Aggressive behavior Mental deterioration Autistic behavior Generalized tonic-clonic seizures Falls Generalized myoclonic seizures Gingival overgrowth Atonic seizures Myoclonus Abnormality of the periventricular white matter Enlarged cisterna magna Generalized tonic seizures Abnormality of brainstem morphology Personality disorder Atypical absence seizures Frontotemporal cerebral atrophy CNS infection Gastroesophageal reflux Recurrent respiratory infections Hernia Mitral valve prolapse Inguinal hernia Clinodactyly of the 5th finger Prominent forehead Micropenis Autism Attention deficit hyperactivity disorder Wide nose Tall stature Cerebral atrophy Pointed chin Congenital hip dislocation Lissencephaly Large for gestational age Disproportionate tall stature Dysphagia Intellectual disability, severe Abnormality of the dentition Fine hair Long philtrum Ichthyosis Astigmatism Abnormality of the pinna Retrognathia Agenesis of corpus callosum Patent ductus arteriosus Visual impairment Cleft palate Advanced eruption of teeth Long fingers Cutis marmorata Accelerated skeletal maturation Coxa valga Narrow face Everted lower lip vermilion Long face Hypermetropia Prominent nasal bridge Absence seizures Absent speech Hyporeflexia Respiratory tract infection Highly arched eyebrow Cyanosis Generalized-onset seizure Drooling Anxiety Loss of consciousness Cavum septum pellucidum Thick corpus callosum Laterally extended eyebrow Strabismus Mandibular prognathia Coloboma Iris coloboma Peripheral axonal neuropathy Aciduria Lactic acidosis Hepatic failure Bulbous nose Metabolic acidosis Delayed myelination Underdeveloped nasal alae Postnatal microcephaly Microphthalmia Infantile muscular hypotonia Adducted thumb Peripheral neuropathy Proptosis Coarse facial features Low-set, posteriorly rotated ears Acidosis Dystonia Choanal atresia Severe global developmental delay Cupped ear Optic nerve coloboma Micrognathia Hepatomegaly Congestive heart failure Areflexia Round face Generalized neonatal hypotonia Prominent nose Decreased fetal movement Epiphyseal stippling Secundum atrial septal defect Perimembranous ventricular septal defect Right aortic arch EEG with focal sharp slow waves


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