Hydrocephalus, and Everted lower lip vermilion

Diseases related with Hydrocephalus and Everted lower lip vermilion

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

Top matches:

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).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, 49; EIEE49

Other less relevant matches:

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

High match 3M SYNDROME

3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

3M SYNDROME Is also known as le merrer syndrome|3-m syndrome|3m syndrome|gloomy face syndrome|yakut short stature syndrome|dolichospondylic dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3M SYNDROME

Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS SYNDROME

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

High match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Everted lower lip vermilion

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Everted lower lip vermilion. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Kyphosis Hearing impairment Long philtrum Abnormality of the skeletal system Severe global developmental delay Strabismus Conductive hearing impairment Abnormal facial shape Midface retrusion Ventriculomegaly Frontal bossing Coarse facial features Muscle weakness Abnormality of the dentition Mandibular prognathia Thick eyebrow Depressed nasal bridge Anteverted nares Open mouth Muscular hypotonia Broad forehead Growth delay Short nose Cognitive impairment Hypoplasia of the corpus callosum High, narrow palate Optic atrophy Macrotia Widely spaced teeth Hypertension Micrognathia Cerebellar vermis hypoplasia Cataract Joint hypermobility Brachydactyly Thick vermilion border Pectus excavatum Delayed skeletal maturation Pes planus Prominent supraorbital ridges Protruding ear Hernia Hypospadias Inguinal hernia Glaucoma Microdontia Umbilical hernia Delayed eruption of teeth Hypoplasia of the maxilla Intrauterine growth retardation Hypertonia Synophrys Hyperactivity Failure to thrive Generalized hirsutism High palate Delayed speech and language development Downslanted palpebral fissures Absent speech Pallor

Rare Symptoms - Less than 30% cases

Heterotopia Hyperlordosis Abnormality of the skull Aortic aneurysm Skeletal dysplasia Protruding tongue Joint laxity Abnormal form of the vertebral bodies Postnatal growth retardation Wide nose Mitral regurgitation Small for gestational age Anteriorly placed anus Hip dislocation Decreased body weight Dolichocephaly Joint hyperflexibility Respiratory distress Pectus carinatum Bulbous nose Macrocephaly Neurological speech impairment Retinal degeneration Skeletal muscle atrophy Intellectual disability, profound Encephalocele Pachygyria Lumbar kyphosis Cardiomyopathy Wide mouth Congestive heart failure Opacification of the corneal stroma Aplasia/Hypoplasia of the corpus callosum Aplasia/Hypoplasia of the cerebellum Cortical dysplasia Kyphoscoliosis Mental deterioration Coxa valga Large hands Abnormal diaphysis morphology Feeding difficulties in infancy Epicanthus Atrial septal defect Vomiting Depressivity Abnormal heart morphology Intellectual disability, mild Hypermetropia Low-set ears Abnormality of the foot Dry skin Myelopathy Narrow palate Hip dysplasia Cerebellar hypoplasia Proptosis Bicuspid aortic valve Cryptorchidism Redundant skin Spinal canal stenosis Coarse hair Sleep apnea Feeding difficulties Left ventricular hypertrophy Hypertrichosis Triangular face Thickened calvaria Short distal phalanx of finger Abnormality of the elbow Thick lower lip vermilion Abnormal mitral valve morphology Abnormality of dental enamel Craniosynostosis Abnormal aortic valve morphology Respiratory insufficiency Joint dislocation Wide anterior fontanel Short neck Dilatation Anxiety Hypodontia Confusion Telecanthus Thin upper lip vermilion Visual loss Wide nasal bridge Holoprosencephaly Long eyelashes Hypotelorism Tetraplegia Short philtrum EEG abnormality Megalocornea Myoclonus Spasticity Dandy-Walker malformation Highly arched eyebrow Brachycephaly Upslanted palpebral fissure Behavioral abnormality Ptosis Full cheeks Broad nasal tip Abnormality of skin pigmentation Prominent forehead Abnormality of dental morphology Sensorineural hearing impairment Intellectual disability, severe Microphthalmia Nystagmus Malar flattening Gait disturbance Communicating hydrocephalus Broad finger Uterine prolapse Hypoplasia of teeth Abnormality of the pubic bone Retinoschisis Pseudoepiphyses of the metacarpals Stooped posture Cataplexy Hyperconvex fingernails Abnormal tricuspid valve morphology Thick nasal alae Narrow iliac wings Thick nasal septum Hypoplasia of the femoral head Calcification of falx cerebri Abnormality of the tonsils Sagittal craniosynostosis Premature loss of primary teeth Rectal prolapse Hyperextensibility of the finger joints Advanced eruption of teeth Abnormality of peripheral nerve conduction Recurrent ear infections Bifid sternum Flexion contracture Abnormality of the nasal alae Abdominal pain Retinopathy Joint stiffness Abnormal CNS myelination Apnea Dermatan sulfate excretion in urine Elevated hepatic transaminase Abnormality of mucopolysaccharide metabolism Hepatosplenomegaly Osteopenia Dyspnea Pes cavus Drumstick terminal phalanges Recurrent respiratory infections Constrictive median neuropathy Pneumonia Constipation Arrhythmia Headache Splenomegaly Diarrhea Edema Hepatomegaly Delayed closure of the anterior fontanelle Rhinorrhea C1-C2 subluxation Craniofacial hyperostosis Short metacarpal Enlarged vertebral pedicles Abnormality of the hair Abnormality of retinal pigmentation Proximal tapering of metacarpals Bullet-shaped phalanges of the hand Broad long bone diaphyses Abnormality of the wing of the ilium Increased size of nasopharyngeal adenoids Psychosis Dental malocclusion Abnormality of glycosaminoglycan metabolism Single transverse palmar crease Deformed humerus Tapered finger Abnormality of the tympanic membrane Dilated cardiomyopathy Stiff interphalangeal joints Broad femoral neck Delayed ossification of carpal bones Cerebral cortical atrophy Abnormal mandible coronoid process morphology Abnormality of premolar morphology Abnormal mandibular ramus morphology Peripheral neuropathy Cutis laxa Thick skull base Cervical kyphosis Abnormality of digit Enlarged tonsils Restrictive cardiomyopathy Hypoplastic fingernail Acrocyanosis Soft skin Hypoplastic cervical vertebrae Severe sensorineural hearing impairment Cervical subluxation Atonic seizures Mandibular condyle hypoplasia Broad palm Progressive spasticity Delayed tarsal ossification Broad hallux Loss of consciousness Abnormality of lysosomal metabolism Emphysema Flaring of rib cage Broad ischia Abnormality of neuronal migration Cutis marmorata Self-injurious behavior Schizophrenia Abnormality of joint mobility Camptodactyly of finger Nyctalopia Abnormal pyramidal sign Restrictive ventilatory defect Abnormal heart valve morphology Large sella turcica Upper airway obstruction Anterior rib cupping Prominent sternum J-shaped sella turcica Abnormality of the gingiva Atlantoaxial dislocation Hip subluxation Hypoplastic ilia Heparan sulfate excretion in urine Angina pectoris Flared nostrils Abnormal hand morphology Conical tooth Biconcave vertebral bodies Cor pulmonale Coronary artery atherosclerosis Enlargement of the wrists Flared metaphysis Multiple joint contractures Metatarsus adductus Toe walking Heart murmur Arthropathy Rhinitis Abnormality of the middle ear ossicles Peripheral visual field loss Large face Beaking of vertebral bodies Tracheal stenosis Abnormality of the respiratory system Dysostosis multiplex Diastasis recti Gingivitis Abnormality of the clavicle Obstructive sleep apnea Recurrent lower respiratory tract infections Shallow orbits Protuberant abdomen Mucopolysacchariduria Palpebral edema Hypoplasia of the odontoid process Short clavicles Thoracic scoliosis Sclerosis of skull base Difficulty standing Abnormal nerve conduction velocity Anterior open bite Meckel diverticulum Aplasia/Hypoplasia of the nasal bone Narrow pelvis bone Flared iliac wings Stridor Large earlobe Macroglossia Retinal fold Interphalangeal joint contracture of finger Lumbar hyperlordosis Cardiomegaly Abnormality of the ribs Abnormality of the cardiovascular system Progressive visual loss Abnormality of the skin Limitation of joint mobility Diaphyseal thickening Short mandibular rami Pulmonary edema Myocardial infarction Sleep disturbance Neurodegeneration Seborrheic dermatitis Inability to walk Hirsutism Genu valgum Endocardial fibroelastosis Abnormality of eye movement Carious teeth Corneal opacity Stroke Urinary glycosaminoglycan excretion Hernia of the abdominal wall Language impairment Spastic paraparesis Hemiplegia Back pain Recurrent upper respiratory tract infections Increased intracranial pressure Hyperammonemia Corneal dystrophy Progressive hearing impairment Cerebral palsy Aortic regurgitation Coxa vara Cervical myelopathy Elbow flexion contracture Thoracolumbar kyphoscoliosis Abnormal vertebral morphology Exotropia Gingival overgrowth Abnormality of epiphysis morphology Thickened skin Chronic diarrhea Split hand Foam cells Recurrent otitis media Calvarial hyperostosis Chronic rhinitis Progressive neurologic deterioration Asthma Prominent fingertip pads Aplastic/hypoplastic lacrimal glands Lissencephaly Undetectable electroretinogram Hypoplasia of the pons Retinal dysplasia Meningocele Retinal atrophy Congenital glaucoma Hemiplegia/hemiparesis Hypoplasia of the brainstem Congenital muscular dystrophy Abnormality of the voice Optic nerve hypoplasia Infantile muscular hypotonia Severe muscular hypotonia Decreased light- and dark-adapted electroretinogram amplitude EMG abnormality High myopia Generalized muscle weakness Polymicrogyria Abnormality of movement Congenital cataract Abnormality of the cerebral white matter Muscular dystrophy Coloboma Neonatal hypotonia Agenesis of corpus callosum Elevated serum creatine phosphokinase Buphthalmos Cerebellar dysplasia Myopia Pointed chin Disproportionate short stature Slender long bone Decreased fertility Short thorax Mild short stature Hypoplasia of the ulna Rocker bottom foot Neonatal respiratory distress Short long bone Spina bifida occulta Scapular winging Congenital hip dislocation Short ribs Type II lissencephaly Narrow face Abnormality of the metaphysis Decreased testicular size Micromelia Severe short stature Clinodactyly of the 5th finger Clinodactyly Enlarged flash visual evoked potentials Short nasal bridge Hypoplasia of the retina Uncontrolled eye movements Hypoglycosylation of alpha-dystroglycan Cerebellar cyst Myopathy Visual impairment Short 5th finger Calvarial skull defect Aggressive behavior Deeply set eye Autism Nevus spillus Congenital giant melanocytic nevus Prominence of the premaxilla Epidermal nevus Cutaneous melanoma Narrow nasal ridge Thick hair Rhabdomyosarcoma Periorbital fullness Narrow nasal bridge Mild microcephaly Hypermelanotic macule Melanocytic nevus Deep philtrum Sarcoma Melanoma Hypopigmented skin patches Neoplasm of the skin Subcutaneous nodule Round face Nevus Pruritus Papule Neoplasm Developmental regression Duplication of thumb phalanx Abnormally prominent line of Schwalbe Reduced number of teeth Axenfeld anomaly Bilateral choanal atresia Polycoria Rieger anomaly Abnormality of the abdominal wall Anterior synechiae of the anterior chamber Hypoplasia of the iris Posterior embryotoxon Aniridia Anal stenosis Myotonia Slurred speech Hypoplasia of dental enamel Hyperreflexia Choanal atresia Growth hormone deficiency Microcornea Anal atresia Blindness Fusion of the left and right thalami Thick upper lip vermilion Spastic tetraplegia Cerebral calcification Epileptic encephalopathy Prominent nose Muscular hypotonia of the trunk Encephalopathy Thin ribs Hypoplastic pelvis Congenital craniofacial dysostosis Platyspondyly Sparse scalp hair Short palpebral fissure Small nail Low posterior hairline Pulmonary arterial hypertension Oligohydramnios Convex nasal ridge Intestinal malrotation Sepsis Pulmonary hypoplasia Astigmatism Smooth philtrum Sparse hair Low anterior hairline Abnormality of the pinna Abnormality of the eye Retrognathia Gastroesophageal reflux Narrow mouth Micropenis Posteriorly rotated ears Patent ductus arteriosus Syndactyly Hypotrophy of the small hand muscles Abnormality of hair pigmentation Positional foot deformity Recurrent urinary tract infections Scrotal hypoplasia Conspicuously happy disposition Premature skin wrinkling Hypoplasia of the abdominal wall musculature Wide nasal ridge Absent distal phalanges Upper eyelid coloboma Recurrent aspiration pneumonia Absence of subcutaneous fat Dermal translucency Hypoplasia of the musculature Pneumothorax Absent nipple Deep palmar crease Prominent superficial veins Abnormal eyelid morphology Oligodontia Sclerocornea Coronal craniosynostosis Turricephaly Underdeveloped supraorbital ridges Hypoplastic nipples Prematurely aged appearance Natal tooth Reduced subcutaneous adipose tissue Anonychia Bilateral cryptorchidism Tricuspid regurgitation Abnormality of vision Abnormality of the metacarpal bones Broad chin Pear-shaped nose Abnormality of the cerebral vasculature Blepharophimosis Underdeveloped nasal alae Vesicoureteral reflux Small hand Long face Cleft upper lip Oral cleft Arachnodactyly Poor speech Pulmonic stenosis Prominent nasal bridge Abnormal cardiac septum morphology Scarring Intellectual disability, moderate Focal-onset seizure Cleft lip Hydronephrosis High forehead Hypothyroidism Abnormality of cardiovascular system morphology Ventricular septal defect Motor delay Cleft palate Increased vertebral height Hypoplastic pubic bone Horizontal ribs Hypoplastic ischia Enlarged thorax Otitis media Wide intermamillary distance Narrow palm Long fingers Multifocal epileptiform discharges Expressive language delay Chronic infection Anteverted ears Abnormality of the head Abnormality of hair texture Glioma Spondylolisthesis Prominent metopic ridge Slender finger Abnormality of the sternum Vertebral fusion Impulsivity Eczema Overfolded helix Sparse eyebrow Elbow dislocation Failure to thrive in infancy Pyloric stenosis Nasal speech Abnormality of the urinary system Laryngomalacia Abnormality of the genitourinary system Sacral dimple Narrow palpebral fissure Abnormality of the genital system Status epilepticus Delayed ossification of the hand bones


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