Hydrocephalus, and Sparse and thin eyebrow

Diseases related with Hydrocephalus and Sparse and thin eyebrow

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Sparse and thin eyebrow that can help you solving undiagnosed cases.

Top matches:

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Other less relevant matches:

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Medium match KABUKI SYNDROME

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

KABUKI SYNDROME Is also known as kabuki make-up syndrome|niikawa-kuroki syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about KABUKI SYNDROME

Medium match DUBOWITZ SYNDROME

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ 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

Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).

CEREBELLAR-FACIAL-DENTAL SYNDROME Is also known as cerebellar-facial-dental syndrome|cerebellofaciodental syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBELLAR-FACIAL-DENTAL SYNDROME

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Hypertension
  • Epicanthus
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Hydrocephalus and Sparse and thin eyebrow

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

Other less frequent symptoms

Patients with Hydrocephalus and Sparse and thin eyebrow. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Upslanted palpebral fissure

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Sparse hair Low-set ears Macrocephaly Sparse eyebrow Abnormal facial shape Hypoplasia of the corpus callosum Generalized hypotonia Protruding ear Hypospadias Hydronephrosis Eczema Pyloric stenosis Hypertelorism Failure to thrive Macrotia Hypertension Ptosis Small hand Muscular hypotonia Hearing impairment Cognitive impairment Depressed nasal bridge Abnormality of the skeletal system Epicanthus Frontal bossing Sparse scalp hair Prominent nasal bridge Anteverted nares Short chin Myopia Laryngomalacia Hip dislocation Abnormality of the urinary system Sparse eyelashes Craniosynostosis Abnormal cardiac septum morphology Cataract Feeding difficulties Intrauterine growth retardation High forehead Agenesis of corpus callosum Broad nasal tip Cerebellar hypoplasia Thin vermilion border Hyperactivity Strabismus Abnormality of cardiovascular system morphology Blepharophimosis Thin upper lip vermilion Pes planus Attention deficit hyperactivity disorder Abnormality of the dentition Conductive hearing impairment Prominent forehead Toe syndactyly Joint hyperflexibility

Rare Symptoms - Less than 30% cases

Postnatal growth retardation High, narrow palate Widely spaced teeth Hydrops fetalis Large fontanelles Cerebellar vermis hypoplasia Hypodontia Narrow mouth Tapered finger Proptosis Hypotrichosis Pectus excavatum Poor speech Oral cleft Cleft palate Nystagmus Hyperkeratosis Recurrent infections Wide nasal bridge Alopecia Telecanthus Metatarsus adductus Abnormality of dental morphology Arachnodactyly Vesicoureteral reflux Broad forehead Wide mouth Dry skin Dilatation Motor delay Expressive language delay Metopic synostosis Long fingers Overgrowth Fine hair Long face Aplasia/Hypoplasia of the corpus callosum Absent eyebrow Joint laxity Sparse lateral eyebrow Overfolded helix Cerebral cortical atrophy Absent speech Kyphosis Downslanted palpebral fissures Cutis marmorata Delayed speech and language development Narrow nose Aplasia/Hypoplasia of the thumb Hip dysplasia Short middle phalanx of finger Sacral dimple Mandibular prognathia Abnormal heart morphology Malar flattening Feeding difficulties in infancy Neoplasm Obesity Scarring Hernia Short phalanx of finger Broad face Congenital diaphragmatic hernia Narrow palpebral fissure Thick vermilion border Highly arched eyebrow Short foot Obsessive-compulsive behavior Wide intermamillary distance Underdeveloped nasal alae Sensorineural hearing impairment Broad columella Short toe Short neck Clinodactyly of the 5th finger Edema Ventricular septal defect Brachycephaly Micrognathia Atrial septal defect Inguinal hernia Brachydactyly Anal stenosis Acute lymphoblastic leukemia Hypoparathyroidism Underdeveloped supraorbital ridges Abnormality of the antihelix Submucous cleft hard palate Status epilepticus Hypotelorism Rectal prolapse Abnormality of neutrophils Focal-onset seizure Otitis media Hypermetropia Abnormality of female external genitalia Cleft upper lip Small for gestational age Pallor Intellectual disability, moderate Abnormality of the foot Cleft lip Anxiety Joint hypermobility Abnormality of thumb phalanx Hypothyroidism Bulbous nose Depressivity Long philtrum Everted lower lip vermilion Pulmonic stenosis Vomiting Broad thumb Delayed cranial suture closure Butterfly vertebrae Arrhythmia Anemia Eversion of lateral third of lower eyelids Lip pit Crossed fused renal ectopia Vertebral clefting Duplicated collecting system Ureteropelvic junction obstruction Thrombocytopenia Abnormal localization of kidney Hyporeflexia Short 5th finger Short columella Abnormality of immune system physiology Mask-like facies Precocious puberty Renal hypoplasia/aplasia Respiratory insufficiency Delayed skeletal maturation Hypoplastic toenails Abnormality of the genital system Sandal gap Spina bifida occulta Abnormality of the fingernails Low anterior hairline Narrow face Wide anterior fontanel Chronic diarrhea Cutaneous photosensitivity Low-set, posteriorly rotated ears Behavioral abnormality Sloping forehead Lymphoma Asthma Delayed eruption of teeth Abnormality of skin pigmentation Malabsorption Midface retrusion Open mouth Abnormality of the genitourinary system Heterotopia Telangiectasia of extensor surfaces Hypopituitarism Hypohidrosis Encephalocele Depressed nasal ridge Short palpebral fissure Glaucoma Hyperhidrosis Talipes equinovarus Facial telangiectasia in butterfly midface distribution Meningocele Epidermal hyperkeratosis Choroid plexus calcification Pulmonary lymphangiectasia Oval face Membranoproliferative glomerulonephritis Arteriosclerosis Nonimmune hydrops fetalis Hydrocele testis Absent eyelashes Median cleft lip Coronal craniosynostosis Freckling Large sella turcica Midline central nervous system lipomas Hypoplasia of the olfactory bulb Aplasia/Hypoplasia of the tibia Dermoid cyst Choroid plexus cyst Decreased lacrimation Retrocerebellar cyst Median cleft palate Parietal foramina Abnormal toenail morphology Anterior pituitary hypoplasia Thick nasal alae Patellar hypoplasia Bifid nose Alopecia totalis Bifid nasal tip Preaxial foot polydactyly Upper airway obstruction Calvarial skull defect Palpebral edema Long nose Narrow palate Abnormality of the sternum Chronic infection Anteverted ears Abnormality of the head Abnormality of hair texture Glioma Spondylolisthesis Prominent metopic ridge Slender finger Vertebral fusion Multifocal epileptiform discharges Cortical dysplasia Impulsivity Elbow dislocation Aortic aneurysm Failure to thrive in infancy Nasal speech Hemivertebrae Bicuspid aortic valve Joint dislocation Prominent fingertip pads Narrow palm Reduced subcutaneous adipose tissue Laryngeal stridor Glomerulonephritis Chronic kidney disease Lymphedema Telangiectasia Stage 5 chronic kidney disease Proteinuria Renal insufficiency Pain Macrodontia of permanent maxillary central incisor Hypoplasia of the pons Pear-shaped nose Taurodontia Slender long bone Stridor Dental malocclusion Hypotrophy of the small hand muscles Abnormality of hair pigmentation Positional foot deformity Broad chin Conspicuously happy disposition Abnormal dermatoglyphics EEG abnormality Preauricular skin tag Glossoptosis Redundant neck skin Abnormality of the neck Decreased skull ossification Hypoplastic scapulae Hypoplastic labia majora Abnormality of finger Sclerocornea Severe failure to thrive Inverted nipples Absent nipple Short clavicles Nephroblastoma Abnormality of blood and blood-forming tissues Thin ribs Severe hearing impairment Abnormality of digit Absent thumb Short finger Aplasia/Hypoplasia of the nipples Premature loss of primary teeth Anonychia Multiple skeletal anomalies Gingival recession Aplasia/Hypoplasia of the clavicles Hypoplastic facial bones Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Renal artery stenosis Renovascular hypertension Hypoplasia of the frontal lobes Aplasia/Hypoplasia of the middle phalanges of the hand Bilateral microphthalmos Generalized neonatal hypotonia Short upper lip Increased nuchal translucency Wide cranial sutures Arrhinencephaly Congenital microcephaly Aplastic clavicle Small earlobe Aplasia/Hypoplasia of the eyebrow Flared metaphysis Generalized hypotrichosis Short philtrum Abnormal aortic morphology Single transverse palmar crease Pain insensitivity Self-biting Dolichocephaly Severe global developmental delay Growth delay Microtia Hepatomegaly Premature birth Abnormality of the pinna Irritability Hypertrophic cardiomyopathy Respiratory distress Cardiomyopathy Polyhydramnios Micropenis Syndactyly Hypopigmentation of the skin Dandy-Walker malformation Self-injurious behavior Low hanging columella Rocker bottom foot Mild short stature Supernumerary nipple Clitoral hypertrophy Tracheomalacia Overweight Abnormality of pelvic girdle bone morphology Tented upper lip vermilion Short ribs Neuronal loss in central nervous system Short thumb Renal neoplasm Pachygyria Small nail Subvalvular aortic stenosis Pulmonary arterial hypertension Cardiomegaly Tetralogy of Fallot Abnormality of the scapula Broad secondary alveolar ridge Long eyelashes Downturned corners of mouth Finger syndactyly Renal hypoplasia Pigmentary retinopathy Short palm Urinary incontinence Wide nose Polymicrogyria Facial asymmetry Retinopathy Absent septum pellucidum Jaundice Polydactyly Short nose Hypertonia Sleep disturbance Severe expressive language delay Thick corpus callosum Long neck Autistic behavior Syringomyelia Short metacarpal Autism Abnormal form of the vertebral bodies Blue sclerae Coarctation of aorta Hypoplasia of penis Microdontia Microcornea Coloboma Microphthalmia Coarse facial features Arnold-Chiari type I malformation Umbilical hernia Deeply set eye Aggressive behavior Partial absence of the septum pellucidum Craniofacial asymmetry Intraventricular hemorrhage Ureterocele Arachnoid cyst Round face Slender build Absent sternal ossification Abnormality of the occipital bone Ataxia Aplasia of the distal phalanx of the hallux Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the proximal phalanx of the hallux Narrow nasal base Aplasia/Hypoplasia of the scapulae Abnormality of dental structure Abnormal parietal bone morphology Multicystic kidney dysplasia Tapered toe Abnormal pelvis bone morphology Short proximal phalanx of hallux Shortening of all distal phalanges of the toes Aplasia of the 1st metacarpal Slender long bones with narrow diaphyses Aplasia/Hypoplasia of the hallux Bilateral external ear deformity Short metatarsal Cerebellar atrophy Communicating hydrocephalus Abnormal cerebellum morphology Long foot Megalencephaly Disproportionate tall stature Large hands Tall stature Lumbar hyperlordosis High myopia Triangular face Narrow forehead Bilateral single transverse palmar creases Broad-based gait Hyperlordosis Stereotypy Difficulty walking Kyphoscoliosis Gait ataxia Posteriorly rotated ears Aortic valve stenosis Abnormality of the glabella


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