Epicanthus, and Decreased fetal movement

Diseases related with Epicanthus and Decreased fetal movement

In the following list you will find some of the most common rare diseases related to Epicanthus and Decreased fetal movement that can help you solving undiagnosed cases.

Top 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

Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

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 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

Other less relevant matches:

Pontocerebellar hypoplasia type 1D is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D

Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTONIA-CYSTINURIA SYNDROME

Medium match COG6-CGD

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (OMIM ) and nonlethal (Escobar) types.

MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS Is also known as escobar syndrome|multiple pterygium syndrome|pterygium syndrome|multiple pterygium syndrome, nonlethal type|pterygium colli syndrome|pterygium universale

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS

Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). Genetic Heterogeneity of Feingold SyndromeFeingold syndrome-2 (FGLDS2 ) is caused by hemizygous deletion of the MIR17HG gene (OMIM ) on chromosome 13q31.3.

FEINGOLD SYNDROME 1; FGLDS1 Is also known as digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|oded syndrome|mmt syndrome|oculodigitoesophagoduodenal syndrome|moded|feingold syndrome|microceph

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about FEINGOLD SYNDROME 1; FGLDS1

Top 5 symptoms//phenotypes associated to Epicanthus and Decreased fetal movement

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Decreased fetal movement. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay High palate Short stature Arthrogryposis multiplex congenita Intellectual disability Downslanted palpebral fissures Flexion contracture Neonatal hypotonia Growth delay Micrognathia Cryptorchidism Cerebellar atrophy Polyhydramnios Intrauterine growth retardation Triangular face Failure to thrive Cerebral atrophy Posteriorly rotated ears Ptosis Hepatomegaly

Rare Symptoms - Less than 30% cases

Anteverted nares Aggressive behavior Vomiting Motor delay Hyperhidrosis Periorbital fullness Scaphocephaly Short neck Central hypotonia Hyperbilirubinemia Deep philtrum Muscle weakness Myopathic facies Abnormal bleeding Respiratory insufficiency Hypertonia Depressed nasal bridge Long face Micropenis Lactic acidosis Muscular hypotonia of the trunk Retrognathia Macrotia Strabismus Downturned corners of mouth Pectus excavatum Hearing impairment Acidosis Poor head control Hypogonadism Respiratory tract infection Talipes equinovarus Diaphragmatic eventration Syndactyly Abnormal vertebral morphology Elevated hepatic transaminase Scoliosis Lymphedema Congenital diaphragmatic hernia Patent ductus arteriosus Hernia Fever Cleft palate Prominent nose High forehead Vertebral fusion Areflexia Myopathy Atrial septal defect Kyphosis Feeding difficulties Renal insufficiency Muscular hypotonia Pterygium Pulmonary hypoplasia Malignant hyperthermia Multiple pterygia Wide nasal bridge Hypoplastic heart Pes cavus Narrow mouth Proximal muscle weakness Umbilical hernia Rigidity Conductive hearing impairment Abnormality of the kidney Kyphoscoliosis Camptodactyly Hip dislocation Delayed puberty Elevated serum creatine phosphokinase Inguinal hernia Shock Aortic regurgitation Tachypnea Hyperkalemia Talipes Arachnodactyly Dental malocclusion Abnormality of the coagulation cascade Ventricular fibrillation Myotonia Ventricular arrhythmia Abnormality of the genital system Myalgia Hyperlordosis Hypospadias Muscular dystrophy Breech presentation Webbed neck Severe lactic acidosis Muscle cramps Hypotension Metabolic acidosis Joint hypermobility Low hanging columella Tachycardia Respiratory arrest Limb muscle weakness Thoracic kyphosis Lumbar hyperlordosis Hyperphosphatemia Congenital ptosis Long upper lip Sinus tachycardia Mixed respiratory and metabolic acidosis Myoglobinuria Acute kidney injury Skeletal muscle atrophy Abnormality of the skeletal system Respiratory distress Pectus carinatum Long philtrum Rhabdomyolysis Stroke Abnormality of the sternum Axillary pterygium Cutaneous syndactyly Short toe 2-3 toe syndactyly Short middle phalanx of finger Tracheoesophageal fistula Nephritis Abnormality of the hand Narrow palpebral fissure Finger clinodactyly Short thumb Prominent occiput Abnormal form of the vertebral bodies Choanal atresia Short palpebral fissure Specific learning disability Single transverse palmar crease Everted lower lip vermilion Thick vermilion border Hallux valgus Abnormality of digit Anal atresia Accessory spleen Aplasia/Hypoplasia of the middle phalanx of the 5th finger Aplasia/Hypoplasia of the middle phalanx of the 2nd finger 4-5 toe syndactyly Small anterior fontanelle Annular pancreas Aplasia of the middle phalanx of the hand Frontal balding Intestinal atresia Esophageal atresia Abnormality of the spleen Duodenal atresia Asplenia Polysplenia Short 5th finger Depressed nasal tip Vocal cord paralysis External ear malformation Oral cleft Facial asymmetry Congenital contracture Furrowed tongue Popliteal pterygium Clitoral hypoplasia Long clavicles Fused cervical vertebrae Rib fusion Patellar aplasia Male hypogonadism Abnormality of the neck Talipes calcaneovalgus Down-sloping shoulders Distal arthrogryposis Hypoplastic nipples Dislocated radial head Multiple joint contractures Rocker bottom foot Neonatal respiratory distress Camptodactyly of toe Prune belly Toe syndactyly Cognitive impairment Finger syndactyly Blepharophimosis Upslanted palpebral fissure Clinodactyly of the 5th finger Clinodactyly Brachydactyly Hypertension Sensorineural hearing impairment Cervical C2/C3 vertebral fusion Dysplastic patella Anterior clefting of vertebral bodies Absence of labia majora Exostosis of the external auditory canal Intercrural pterygium Neck pterygia Bilateral camptodactyly Antecubital pterygium Arrhythmia Thrombocytopenia Midface retrusion Recurrent respiratory infections Adducted thumb Fasciculations Generalized muscle weakness Inability to walk Abnormality of eye movement Respiratory failure Hyporeflexia Weak cry Hyperreflexia Spasticity Nystagmus Abnormality of the male genitalia Abnormality of the hairline Elevated long chain fatty acids Oral-pharyngeal dysphagia Fractures of the long bones CNS demyelination Thin upper lip vermilion Dysmetria Astigmatism Synophrys Neurological speech impairment Prominent nasal bridge Deeply set eye Gastroesophageal reflux Ataxia Prominent forehead Cerebellar hypoplasia Dysphagia Dysarthria Delayed speech and language development Pain Cranial asymmetry Delayed closure of the anterior fontanelle Vesicoureteral reflux Epiphyseal stippling Depressed nasal ridge Edema Generalized neonatal hypotonia Right aortic arch Perimembranous ventricular septal defect Secundum atrial septal defect Round face Increased susceptibility to fractures Pulmonic stenosis Severe global developmental delay Broad forehead Congestive heart failure Ventricular septal defect Cataract Joint dislocation Akinesia Abnormal cortical bone morphology Sepsis Renal tubular dysfunction Double outlet right ventricle Cholelithiasis Wide anterior fontanel Decreased body weight Peripheral demyelination Hepatic failure Short finger Hydrocephalus Abnormal cervical curvature Amyoplasia Fetal akinesia sequence Meningocele Thin ribs Cystic hygroma Broad nasal tip Delayed myelination Dilatation Malabsorption Hip dysplasia Focal-onset seizure Decreased antibody level in blood Hepatic steatosis Postaxial polydactyly Cirrhosis Abnormal cardiac septum morphology Cholestasis Abnormality of the liver Hepatosplenomegaly Hyperkeratosis Polydactyly Cerebral cortical atrophy Recurrent infections Pancytopenia Chronic diarrhea Diarrhea Impaired T cell function Malar flattening Type II transferrin isoform profile Abnormal T cell morphology Gastrointestinal inflammation Macrovesicular hepatic steatosis Micronodular cirrhosis Proximal tubulopathy Hypohidrosis Abnormal cortical gyration Neurodevelopmental delay Combined immunodeficiency Loss of consciousness Inflammation of the large intestine Abnormal intestine morphology Lymphopenia Immunodeficiency Hypoplasia of the corpus callosum Apraxia Oval face Intellectual disability, severe Frontal bossing Fatigue Broad chin Overfolding of the superior helices Horizontal eyebrow Pain insensitivity Facial palsy Inverted nipples Delayed ability to walk Overfolded helix Abnormality of the genitourinary system Short chin Stereotypy Intellectual disability, moderate Feeding difficulties in infancy Ventriculomegaly Nasal speech Anemia Cystinuria Severe failure to thrive Neonatal hypoglycemia Polyphagia Abnormality of mitochondrial metabolism Tented upper lip vermilion Dolichocephaly Severe muscular hypotonia Hypocalcemia Increased body weight Hypergonadotropic hypogonadism Long eyelashes Nephrolithiasis Growth hormone deficiency Deviation of the 2nd finger


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