Epicanthus, and Thin upper lip vermilion

Diseases related with Epicanthus and Thin upper lip vermilion

In the following list you will find some of the most common rare diseases related to Epicanthus and Thin upper lip vermilion that can help you solving undiagnosed cases.

Top matches:

Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).

INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN Is also known as dias-logan syndrome|intellectual developmental disorder with hereditary persistence of fetal hemoglobin

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Strabismus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Epicanthus
  • Brachydactyly
  • Ventriculomegaly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

Other less relevant matches:

Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64

Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM 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

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Top 5 symptoms//phenotypes associated to Epicanthus and Thin upper lip vermilion

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Thin upper lip vermilion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Delayed speech and language development Hypoplasia of the corpus callosum Wide nasal bridge Abnormal facial shape Feeding difficulties Upslanted palpebral fissure Narrow mouth Prominent nose Strabismus

Rare Symptoms - Less than 30% cases

Abnormal heart morphology Clinodactyly Hypermetropia Micrognathia Short palpebral fissure Myopia Developmental regression Encephalopathy Cerebellar hypoplasia Cerebral cortical atrophy Macrotia Smooth philtrum Delayed ability to walk Long philtrum Acidosis Spasticity Muscular hypotonia High palate Growth delay Agenesis of corpus callosum Brachydactyly Hydrocephalus Midface retrusion Joint hypermobility Low-set ears Cleft lip Oral cleft Ventriculomegaly Neutropenia Decreased methionine synthase activity Fusion of the left and right thalami Flat nasal alae Decreased adenosylcobalamin Immunodeficiency Megaloblastic bone marrow Abnormality of the dentition Hypoplasia of the premaxilla Recurrent infections Hyperactivity Decreased methylcobalamin Anxiety Hyperhomocystinemia Attention deficit hyperactivity disorder Unsteady gait Absent nasal septal cartilage Parietal bossing Alobar holoprosencephaly Bilateral cleft lip Iris coloboma Highly arched eyebrow Dental malocclusion Hypotelorism Omphalocele Holoprosencephaly Flat occiput Partial agenesis of the corpus callosum Median cleft lip Depressed nasal tip Semilobar holoprosencephaly Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Cystathioninuria Midline defect of the nose Asthma Hypodontia Oligodontia Microdontia Thrombocytopenia Megaloblastic anemia Aplasia of the inferior half of the cerebellar vermis Ataxia Failure to thrive Anemia Macrocytic anemia Rheumatoid arthritis Incoordination Arthritis Juvenile rheumatoid arthritis Psychosis Pancytopenia Abnormality of the skin Feeding difficulties in infancy Aciduria Skin rash Microtia Small for gestational age Small cerebral cortex Periventricular leukomalacia Hypsarrhythmia Methylmalonic acidemia Narrow palpebral fissure Lethargy Eosinophilia Myopathic facies Thin eyebrow Ptosis Glossitis Ventricular septal defect Homocystinuria Mild microcephaly Methylmalonic aciduria Atrial septal defect Stomatitis Posteriorly rotated ears Telecanthus Camptodactyly Broad forehead Abnormality of digit Curly hair Short philtrum Downturned corners of mouth Protruding ear Broad nasal tip Hypoplastic ischia Vertebral wedging Short stature Cataract Abnormality of the skeletal system Pes planus Abnormality of the cerebral white matter Small hand Underdeveloped nasal alae Cystic hygroma Postnatal microcephaly Sandal gap Overlapping toe Broad hallux Slender finger Cognitive impairment Depressed nasal bridge Hypertonia Dystonia Thoracic dysplasia Preaxial polydactyly Generalized tonic-clonic seizures Overfolded helix Downslanted palpebral fissures Cerebellar atrophy Autism Retrognathia Joint laxity Autistic behavior Everted lower lip vermilion Blue sclerae Cupped ear Polycystic kidney dysplasia Respiratory insufficiency Syndactyly Polydactyly Platyspondyly Narrow chest Micromelia Postaxial polydactyly Intestinal malrotation Short ribs Absent speech Inability to walk Microphthalmia Underdeveloped supraorbital ridges Brachycephaly Abnormality of the pinna Synophrys Tapered finger Generalized myoclonic seizures Round face Narrow forehead Congenital hypothyroidism Malignant hyperthermia Obesity Congenital stationary night blindness Abnormality of brain morphology Horizontal eyebrow Large fleshy ears Multifocal cerebral white matter abnormalities Macrocephaly Frontal bossing Anteverted nares Short nose Clinodactyly of the 5th finger Intellectual disability, severe Chorea Peripheral neuropathy Delayed myelination Focal-onset seizure Febrile seizures Epileptic encephalopathy Status epilepticus Hemiparesis Limb hypertonia Nystagmus Hepatomegaly Increased serum pyruvate Respiratory distress Babinski sign Hypoglycemia Lactic acidosis Increased serum lactate Wide intermamillary distance Progressive microcephaly Organic aciduria Rotary nystagmus Cystathioninemia


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