Hydrocephalus, and Full cheeks

Diseases related with Hydrocephalus and Full cheeks

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Full cheeks 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

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

Other less relevant matches:

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

High match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

High match PEHO SYNDROME

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

PEHO SYNDROME Is also known as progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|infantile cerebellooptic atrophy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO SYNDROME

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).

HAJDU-CHENEY SYNDROME; HJCYS Is also known as acroosteolysis with osteoporosis and changes in skull and mandible|sfpks|cheney syndrome|arthrodentoosteodysplasia|serpentine fibula-polycystic kidney syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about HAJDU-CHENEY SYNDROME; HJCYS

Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Top 5 symptoms//phenotypes associated to Hydrocephalus and Full cheeks

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Full cheeks. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Long philtrum Anteverted nares Growth delay Microcephaly Micrognathia Cleft palate Abnormality of cardiovascular system morphology Intellectual disability Short neck Hearing impairment Generalized hypotonia Ventriculomegaly Seizures Low-set ears Patent ductus arteriosus Downslanted palpebral fissures Bowing of the long bones Depressed nasal bridge Optic atrophy Macrocephaly Frontal bossing High palate Wide nasal bridge Intrauterine growth retardation Muscular hypotonia Hernia Hypospadias Intestinal malrotation Telecanthus Epicanthus Neoplasm Hypoplasia of the corpus callosum Ventricular septal defect Cryptorchidism Short stature

Rare Symptoms - Less than 30% cases

Open mouth Neuronal loss in central nervous system Hypermelanotic macule Retrognathia Progressive microcephaly Biconcave vertebral bodies Platybasia Brain atrophy Abnormality of the eye Cerebellar hypoplasia Absent frontal sinuses Umbilical hernia Coarse facial features Feeding difficulties in infancy Recurrent respiratory infections Synophrys Dolichocephaly Thin vermilion border Thick eyebrow Wide nose Hirsutism Recurrent fractures Abnormal heart morphology Abnormality of the pinna Microphthalmia Skeletal dysplasia Wormian bones Osteolysis Downturned corners of mouth Abnormal cardiac septum morphology Malar flattening Agenesis of corpus callosum Cerebral atrophy EEG abnormality Oligohydramnios Inguinal hernia Low-set, posteriorly rotated ears Narrow palpebral fissure Short palpebral fissure Cataract Deeply set eye Wide mouth Abnormality of the dentition Facial asymmetry Joint hyperflexibility Polymicrogyria Arnold-Chiari malformation Anteriorly placed anus Hyperreflexia Joint laxity Feeding difficulties Osteoporosis Pachygyria Narrow mouth Brachydactyly Abnormality of nervous system morphology Generalized hirsutism Osteopenia Respiratory distress Atrial septal defect Neonatal respiratory distress Microretrognathia Wide anterior fontanel Hypoplastic left heart Sparse eyelashes Large fontanelles Bilateral cryptorchidism Proximal placement of thumb Abdominal distention Small nail Abnormality of the genitourinary system Abnormality of the genital system Cerebellar vermis hypoplasia Postural instability Vomiting Short palm Interphalangeal joint contracture of finger Tricuspid regurgitation Rocker bottom foot Patent foramen ovale Redundant skin Abnormality of vision Plagiocephaly Mitral valve prolapse Thoracic hypoplasia Triangular face Small hand Smooth philtrum Camptodactyly of finger Neonatal hypotonia Thin upper lip vermilion Mild short stature External genital hypoplasia Pulmonic stenosis Dilatation Narrow chest Blepharophimosis Postnatal growth retardation Polyhydramnios Respiratory failure Clinodactyly Syndactyly Shallow orbits Double outlet right ventricle Cardiomyopathy Dysphagia Delayed speech and language development Ptosis Secundum atrial septal defect Ventricular extrasystoles Tracheomalacia Genu valgum Pierre-Robin sequence Kyphosis Iris coloboma Short distal phalanx of finger Dry skin Delayed puberty Pectus carinatum Arthralgia Headache Splenomegaly Bone pain Myopia Hepatomegaly Peripheral neuropathy Scoliosis Cheyne-Stokes respiration Elongated sella turcica Tall lumbar vertebral bodies Crowded carpal bones Thickened skin Short toe Bilateral vocal cord paralysis Patellar dislocation Hypoplastic 5th lumbar vertebrae Rough bone trabeculation Abnormality of the mandible Mitral stenosis Decreased skull ossification Periodontitis Hypoplasia of the zygomatic bone Abnormality of the skull Multiple renal cysts Aortic valve stenosis Syringomyelia Prominent occiput Open bite Abnormality of the voice Coarse hair Abnormality of the fingernails Low anterior hairline Skin ulcer Serpentine fibula Foot acroosteolysis Tracheal stenosis Pain Renal cyst Joint hypermobility Paralysis Protruding ear Conductive hearing impairment Kyphoscoliosis Recurrent infections Renal insufficiency Laryngeal hypoplasia Abnormality of the face Bronchomalacia Anotia Extramedullary hematopoiesis Endocardial fibroelastosis Entropion Redundant neck skin Abnormality of the larynx Cleft soft palate Dental malocclusion Long eyelashes Basilar invagination Vocal cord paralysis Cervical instability Basilar impression Large sella turcica Short nail Generalized osteoporosis Large earlobe Osteolytic defects of the phalanges of the hand Vertebral compression fractures Radial bowing Abnormal vertebral morphology Premature loss of teeth Proportionate short stature Dislocated radial head Vertebral fusion Pathologic fracture Delayed cranial suture closure Metatarsus adductus Increased bone mineral density Pes planus Tented upper lip vermilion Upslanted palpebral fissure Hemiplegia Abnormal muscle tone Hypouricemia Myoclonic spasms Lens luxation Axonal loss Opisthotonus Ectopia lentis Poor head control Molybdenum cofactor deficiency Spastic tetraparesis Tetraparesis Spastic tetraplegia Peripheral demyelination Gliosis Thick vermilion border Long face Severe global developmental delay Increased urinary taurine Increased urinary hypoxanthine Nystagmus Anemia Bone marrow hypocellularity Cafe-au-lait spot Renal hypoplasia Anal atresia Leukemia Microtia Hydronephrosis Micropenis Aldehyde oxidase deficiency Xanthinuria Absent urinary urothione Decreased urinary urate Increased urinary thiosulfate Reduced xanthine dehydrogenase activity Increased urinary sulfite Decreased urinary sulfate Xanthine nephrolithiasis Sulfite oxidase deficiency Hypertonia Asymmetric growth Tracheoesophageal fistula Subcutaneous nodule Narrow nasal bridge Melanocytic nevus Deep philtrum Sarcoma Melanoma Hypopigmented skin patches Neoplasm of the skin Round face Periorbital fullness Nevus Broad nasal tip Everted lower lip vermilion Abnormality of skin pigmentation Pruritus Papule Broad forehead Prominent forehead Calvarial skull defect Rhabdomyosarcoma Visceral angiomatosis Toe syndactyly Cerebral ischemia Arteriovenous malformation Nevus flammeus Foot polydactyly Telangiectasia of the skin Cutis marmorata Aplasia/Hypoplasia of the cerebellum Hand polydactyly Finger syndactyly Thick hair High forehead Arrhythmia Nevus spillus Congenital giant melanocytic nevus Prominence of the premaxilla Epidermal nevus Cutaneous melanoma Narrow nasal ridge Hypoplasia of the radius Absent thumb Clinodactyly of the 5th finger Limitation of joint mobility Infantile muscular hypotonia Abnormal palate morphology Severe muscular hypotonia Gingival overgrowth Intellectual disability, profound Hypsarrhythmia Narrow forehead Tapered finger Biparietal narrowing Abnormality of movement Abnormality of eye movement Arthrogryposis multiplex congenita Macrotia Cerebral cortical atrophy Myoclonus Visual loss Encephalopathy Infantile spasms Atrophy/Degeneration affecting the brainstem Midface retrusion Peripheral edema Intellectual disability, mild Abnormality of the skeletal system Sensorineural hearing impairment Undetectable visual evoked potentials Peripheral dysmyelination Edema of the dorsum of feet Edema of the dorsum of hands Abnormality of upper lip Infantile encephalopathy Drowsiness Porencephalic cyst Periventricular leukomalacia Developmental stagnation Edema of the lower limbs Progressive encephalopathy External ear malformation Epileptic spasms Palpebral edema Absent speech Cerebellar atrophy Esophageal atresia Postaxial hand polydactyly Anophthalmia Aplasia/Hypoplasia of the corpus callosum Multicystic kidney dysplasia Situs inversus totalis Encephalocele Depressed nasal ridge Ambiguous genitalia Sloping forehead Dandy-Walker malformation Anencephaly Microcornea Talipes Hypoplastic sacrum Forearm undergrowth Abnormality of chromosome stability Rectovaginal fistula Depressed nasal tip Chromosome breakage Preaxial hand polydactyly Male pseudohermaphroditism Blindness Urethral atresia Intellectual disability, severe Edema Flexion contracture Cystic liver disease Lobar holoprosencephaly True hermaphroditism Pancreatic fibrosis Aplasia/Hypoplasia of the tongue Abnormal chorioretinal morphology Postaxial foot polydactyly Aplasia/Hypoplasia of the iris Accessory spleen Pancreatic cysts Ureteral duplication Congenital hepatic fibrosis Furrowed tongue Asplenia Sclerocornea Partial absence of toe


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Cerebellar vermis hypoplasia, related diseases and genetic alterations Hydrocephalus and Subcutaneous nodule, related diseases and genetic alterations Strabismus and Atopic dermatitis, related diseases and genetic alterations Nystagmus and Urinary incontinence, related diseases and genetic alterations Abnormal facial shape and Severe global developmental delay, related diseases and genetic alterations Cleft palate and Congestive heart failure, related diseases and genetic alterations