Downslanted palpebral fissures, and Hypoglycemia

Diseases related with Downslanted palpebral fissures and Hypoglycemia

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

Top matches:

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Other less relevant matches:

High match SOTOS SYNDROME

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

SOTOS SYNDROME Is also known as cerebral gigantism

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SOTOS SYNDROME

Smith-Kingsmore syndrome is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015).

MACROCEPHALY-INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER-SMALL THORAX SYNDROME Is also known as minds syndrome|macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism|macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|smith-kingsmore syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER-SMALL THORAX SYNDROME

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape|gcps

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Hypoglycemia

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Hydrocephalus

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Scoliosis Low-set, posteriorly rotated ears Low-set ears Delayed skeletal maturation Umbilical hernia Short stature Muscular hypotonia Ventriculomegaly Frontal bossing Hernia Neoplasm Anteverted nares Posteriorly rotated ears Coarse facial features Hypothyroidism Atrial septal defect Accelerated skeletal maturation High palate Pectus excavatum Ventricular septal defect Delayed speech and language development Inguinal hernia Hypospadias Abnormal heart morphology Large for gestational age Epicanthus Patent ductus arteriosus Feeding difficulties Depressed nasal bridge High forehead Short nose Hearing impairment Prominent forehead Growth delay Failure to thrive Wide mouth Growth hormone deficiency Hepatomegaly Hoarse voice Thick lower lip vermilion Vomiting Eczema Dandy-Walker malformation Relative macrocephaly Cataract Short distal phalanx of finger Obesity Webbed neck High, narrow palate Pulmonic stenosis Postnatal growth retardation Abnormality of cardiovascular system morphology Dolichocephaly Cardiomyopathy Short neck Ptosis Cafe-au-lait spot Feeding difficulties in infancy Cognitive impairment Abnormality of the fingernails Tall stature Nystagmus Craniosynostosis Hypoplasia of the corpus callosum Kyphoscoliosis Microcephaly Thick vermilion border Sparse hair Abnormality of the skeletal system Congenital hip dislocation Abnormality of digit Agenesis of corpus callosum Congenital diaphragmatic hernia Hyperglycemia Macrotia Overgrowth Wide nose Myopia

Rare Symptoms - Less than 30% cases

Curly hair Megalencephaly Short chin Diastasis recti Wide anterior fontanel Intestinal malrotation Renal cyst Cerebellar vermis hypoplasia Deep palmar crease Small nail Broad nasal tip Abnormality of the testis Thin upper lip vermilion Abnormality of the dentition Neuroblastoma Macroglossia Irritability Polyhydramnios Proptosis Arrhythmia Talipes equinovarus Long eyelashes Hypertension Precocious puberty Duodenal ulcer Hepatoblastoma Hemangioma Preauricular skin tag Long philtrum Dilatation Joint laxity Deep plantar creases Intellectual disability, mild Hyperpigmentation of the skin Finger syndactyly Infantile muscular hypotonia Polydactyly Arnold-Chiari malformation Syndactyly Wide nasal bridge Toe syndactyly Loose anagen hair Failure to thrive in infancy Hypoplastic toenails Neurodevelopmental delay Arnold-Chiari type I malformation Redundant neck skin Sparse scalp hair Confusion Brachydactyly Hypotrichosis Astigmatism Enlarged cisterna magna Hydronephrosis Gastroesophageal reflux Hypertrophic cardiomyopathy Pectus carinatum Cleft palate Hirsutism Joint hypermobility Thin vermilion border Partial agenesis of the corpus callosum Postaxial hand polydactyly Postural instability Postaxial polydactyly Fragile nails Broad thumb Abnormality of the nervous system Clumsiness Blue sclerae Hypotelorism Full cheeks Absent speech Dysarthria Intrauterine growth retardation Intellectual disability, severe Edema Delayed puberty Deeply set eye Myopathy Nevus Splenomegaly Cerebral atrophy Thrombocytopenia Abdominal pain Cerebral cortical atrophy Diarrhea Renal hypoplasia Pain Mandibular prognathia Hip dislocation Recurrent hypoglycemia Pyloric stenosis Open mouth EEG abnormality Behavioral abnormality Cleft lower lip Osteoporosis Meckel diverticulum Cervical ribs Hyperhidrosis Pancreatic islet-cell hyperplasia Chordee Ankyloglossia Increased IgE level Embryonal neoplasm Hypogonadism Ureteral duplication Respiratory failure Hyperkeratosis Aplasia/Hypoplasia of the abdominal wall musculature Flared iliac wings Abnormality of the helix Furrowed tongue Severe short stature Broad toe Pes cavus Nephroblastomatosis Submucous cleft lip Six lumbar vertebrae Cyst of the ductus choledochus Two carpal ossification centers present at birth Duplication of renal pelvis Penoscrotal transposition Motor delay Birth length greater than 97th percentile Renal neoplasm Renal insufficiency Broad secondary alveolar ridge Narrow sacroiliac notch 2-3 finger syndactyly Dysphagia Posterior helix pit Short sacroiliac notch Short 2nd finger Respiratory insufficiency Penoscrotal hypospadias Conductive hearing impairment Transposition of the great arteries Duodenal atresia Poor speech Dental malocclusion Bifid uvula Short foot Retinal detachment Short palm Cleft upper lip Facial asymmetry Congenital cataract Neurological speech impairment Camptodactyly of finger Cleft lip Upslanted palpebral fissure Hypoplasia of penis Clinodactyly of the 5th finger Narrow forehead Blindness Chronic diarrhea Torticollis Short distal phalanx of the 5th toe Lumbosacral hirsutism Hypoplastic fifth fingernail Short distal phalanx of the 5th finger Prominent interphalangeal joints Severe expressive language delay Premature thelarche Nail dysplasia Abnormality of the ribs Polysplenia Hydroureter Low hanging columella Broad foot Enlarged kidney Abnormal lung lobation Carcinoma Broad palm Vertebral fusion Vertebral segmentation defect Prolonged QT interval Supernumerary nipple Bundle branch block Bilateral talipes equinovarus Omphalocele Preauricular pit Cupped ear Nephroblastoma Abnormality of the voice Abnormality of the hand Narrow palpebral fissure Multicystic kidney dysplasia Cardiac arrest Short toe Cerebral visual impairment Renal dysplasia Abnormality of the genital system Osteopenia Sleep disturbance Intellectual disability, moderate Schwannoma Capillary malformation Triangular mouth Melena Hematemesis Thin nail Large face Papilloma Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Broad femoral neck Abnormal pulmonary valve morphology Rhabdomyosarcoma Hyperextensibility of the finger joints Pneumothorax Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Labial hypoplasia Lack of skin elasticity Central apnea Bladder neoplasm Ulnar deviation of the wrist Large forehead Bladder carcinoma Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Cardiomyocyte hypertrophy Choroid plexus papilloma Body odor Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Verrucae Achilles tendon contracture Apnea Apraxia Acanthosis nigricans Abnormality of dental enamel Narrow palate Pointed chin Abnormality of the hair Hydrops fetalis Lymphedema Decreased body weight Hypoplasia of dental enamel Atrial fibrillation Epidermal acanthosis Mitral valve prolapse Abnormal dermatoglyphics Hip dysplasia Abnormality of the skin Premature birth Sepsis Tetraplegia Ascites Intussusception Hematuria Tachycardia Joint hyperflexibility Hypermetropia Arthrogryposis multiplex congenita Cutis laxa Laryngomalacia Thick upper lip vermilion Tracheomalacia Large earlobe Woolly hair Progeroid facial appearance Barrel-shaped chest Thickened nuchal skin fold Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Soft skin Neonatal hypoglycemia Syringomyelia Central hypotonia Generalized hyperpigmentation Poor suck Ulnar deviation of finger Rhabdomyolysis Keratoconus Reduced subcutaneous adipose tissue Rocker bottom foot Tricuspid regurgitation Bilateral cryptorchidism Heart murmur Pleural effusion Aortic aneurysm Redundant skin Hyperextensible skin Facial hypertrichosis Short sternum Tented upper lip vermilion Carious teeth Mitral regurgitation Cerebellar atrophy Low posterior hairline Ventricular hypertrophy Coarctation of aorta Cyanosis Wide intermamillary distance Elevated serum creatine phosphokinase Acidosis Ichthyosis Arthralgia Optic atrophy Hepatosplenomegaly Elevated hepatic transaminase Attention deficit hyperactivity disorder Abnormality of the liver Retrognathia Skin rash Hyperactivity Leukemia Malabsorption Lymphadenopathy Lactic acidosis Thin skin Hypocalcemia Metabolic acidosis Aplasia/Hypoplasia of the eyebrow Abnormally large globe Hypomagnesemia Prominent superficial veins Hiatus hernia Abnormality of the elbow Broad neck Atopic dermatitis Natal tooth Freckling Kinetic tremor Abnormality of coagulation Right bundle branch block Abnormal palate morphology Increased vertebral height Overfolded helix Ataxia Patent foramen ovale Nasal speech Deep philtrum Coarse hair Optic nerve hypoplasia Increased intracranial pressure Anemia Fever Retinal dystrophy Triangular face Down-sloping shoulders Renal duplication Pneumonia Hypoplastic anemia Midface retrusion Glutathione synthetase deficiency Therapeutic abortion Chronic leukemia Morbilliform rash Fluctuating hepatomegaly Fluctuating splenomegaly Sacrococcygeal teratoma Neoplasm of the nervous system Advanced eruption of teeth Extramedullary hematopoiesis Multiple renal cysts Abnormality of the ureter Abnormality of immune system physiology Normocytic hypoplastic anemia Genu varum Aplasia/Hypoplasia of the corpus callosum Hyperreflexia Depressed nasal ridge Vesicoureteral reflux Genu valgum Abnormal cardiac septum morphology Normocytic anemia Agenesis of cerebellar vermis Progressive cerebellar ataxia Leukocytosis Progressive macrocephaly Short proximal phalanx of finger Intestinal polyp Perisylvian polymicrogyria Aciduria Breech presentation Preeclampsia Underdeveloped nasal alae Arachnoid cyst IgA deficiency Large fontanelles Petechiae Coloboma Severe failure to thrive Nuclear cataract Rhizomelia Limb undergrowth Asthma Organic aciduria Iris coloboma Cholestatic liver disease Polymicrogyria Smooth philtrum Narrow chest Maternal diabetes Ketoacidosis Ectopic posterior pituitary Synophrys Hypertrichosis Sensorineural hearing impairment Spasticity Decreased fetal movement Tetralogy of Fallot Delayed eruption of teeth Single transverse palmar crease Tremor Thick eyebrow Bulbous nose Diabetes mellitus Severe global developmental delay Increased head circumference Short philtrum Autistic behavior Respiratory tract infection Abnormality of the pinna Gait ataxia Aggressive behavior Narrow mouth Recurrent respiratory infections Clinodactyly Recurrent infections Kyphosis Choanal atresia Congenital muscular torticollis Hyperlordosis Short 5th finger Gastric ulcer Generalized hypertrichosis Hypotrichosis of the scalp Anterior pituitary hypoplasia Abnormality of the head Aplasia/Hypoplasia of the patella Patellar hypoplasia Rectal prolapse Aplasia of the uterus Neoplasm of the liver Tics Dislocated radial head Low anterior hairline Ectopic kidney Anonychia Cutis marmorata Elevated alkaline phosphatase Facial hypotonia Sacral dimple Spina bifida occulta Coxa valga Generalized hirsutism Horseshoe kidney Increased body weight Respiratory distress Visual impairment Abnormality of refraction Polyuria Delayed myelination Round face Fine hair Abnormal vertebral morphology Camptodactyly Telecanthus Truncal ataxia Type I diabetes mellitus Oligodontia Polydipsia Hypoplasia of the brainstem Brisk reflexes Joint contracture of the hand Abnormality of the nasal bridge Broad fingertip High pitched voice Abnormal location of ears Superior pectus carinatum Abnormality of the intervertebral disk Dermal translucency Abnormality of the pulmonary artery Thickened helices Peripheral pulmonary artery stenosis Slow-growing hair Downturned corners of mouth Plagiocephaly Small for gestational age High anterior hairline 1-3 toe syndactyly Duplication of the distal phalanx of hand 3-4 finger syndactyly Abnormality of calvarial morphology Camptodactyly of toe Abnormality of muscle fibers Metopic synostosis Cutaneous syndactyly of toes Medulloblastoma Preaxial foot polydactyly Broad hallux phalanx Abnormality of finger Cutaneous syndactyly Postaxial foot polydactyly Foot polydactyly Scaphocephaly Cutaneous finger syndactyly Dysmetria Delayed cranial suture closure Broad hallux Preaxial hand polydactyly Trigonocephaly Hand polydactyly Preaxial polydactyly Increased corneal curvature


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