Hydrocephalus, and Long philtrum

Diseases related with Hydrocephalus and Long philtrum

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


Top matches:

High match LARGE CONGENITAL MELANOCYTIC NEVUS


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

High match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A


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

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

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Other less relevant matches:

High match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

High match ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2


The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2 Is also known as multisynostotic osteodysgenesis with long bone fractures|osteodysgenesis, multisynostotic, with fractures|trapezoidocephaly-synostosis syndrome

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Depressed nasal bridge
  • Frontal bossing
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2

High match ALG13-CDG


ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

ALG13-CDG Is also known as cdg syndrome type is|congenital disorder of glycosylation type is|cdg1s|cdg-is|congenital disorder of glycosylation type 1s

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG13-CDG

High match 6Q25 MICRODELETION 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

High match MONOSOMY 9Q22.3


Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

High match CAMPOMELIC DYSPLASIA


Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

CAMPOMELIC DYSPLASIA Is also known as campomelic dwarfism|cmpd1|cmpd|cmd1|cmpd1/sra1

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAMPOMELIC DYSPLASIA

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Long philtrum

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hydrocephalus and Long philtrum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Abnormal facial shape Low-set ears Microcephaly Short nose Muscular hypotonia Feeding difficulties Short neck Growth delay Failure to thrive Macrocephaly Frontal bossing Depressed nasal bridge Ventriculomegaly Hearing impairment Malar flattening Respiratory distress Abnormality of the skeletal system Hypoplasia of the corpus callosum Intrauterine growth retardation Cleft palate Rocker bottom foot Short chin Apnea Short stature Full cheeks Kyphosis Scoliosis Delayed myelination

Rare Symptoms - Less than 30% cases


Umbilical hernia Coarse facial features Clinodactyly of the 5th finger Absent speech Patent ductus arteriosus Upslanted palpebral fissure Thin upper lip vermilion Abnormal heart morphology Protruding ear Short long bone Clumsiness Ventricular septal defect Wide nasal bridge Brachydactyly Laryngomalacia Wide mouth Sensorineural hearing impairment Thin ribs Atrial septal defect Hip dislocation Pectus excavatum Pes planus Joint laxity Dolichocephaly Triangular face Short palpebral fissure Small hand Mild short stature Thoracic hypoplasia Shallow orbits Epicanthus Narrow iliac wings Joint hyperflexibility Skeletal dysplasia Delayed eruption of teeth Femoral bowing Wide anterior fontanel Narrow chest Abnormality of the pinna Proptosis Midface retrusion Downslanted palpebral fissures Micrognathia Flexion contracture Severe short stature High palate Abnormality of cardiovascular system morphology EEG abnormality Nystagmus Periorbital fullness Severe global developmental delay Open mouth Cerebral atrophy Thick vermilion border Rhabdomyosarcoma Hypertonia Everted lower lip vermilion Poor head control Broad forehead Congenital hip dislocation Abnormality of dental enamel Hyperactivity Polydactyly Microphthalmia Narrow mouth Joint dislocation Retinopathy Cataract Oral cleft Small face Abnormality of the ribs Tall stature Accelerated skeletal maturation Scapular winging Arnold-Chiari malformation Pointed chin Trigonocephaly Nephroblastoma Short ribs Large for gestational age Basal cell carcinoma Narrow face Abnormality of the vertebral column Medulloblastoma Metopic synostosis Strabismus Secundum atrial septal defect Spina bifida occulta Short 5th finger Facial asymmetry Camptodactyly of finger Abnormality of the eye Low-set, posteriorly rotated ears Abnormality of the elbow Neonatal hypotonia Agenesis of corpus callosum Disproportionate short stature Hypoplastic pelvis Abnormality of the cerebral vasculature Enlarged thorax Hypoplastic ischia Horizontal ribs Hypoplastic pubic bone Smooth philtrum Mitral valve prolapse Abnormality of nervous system morphology Short thorax Palmar pits Ventricular extrasystoles Neonatal respiratory distress Anteriorly placed anus External genital hypoplasia Hypoplasia of the ulna Tricuspid regurgitation Interphalangeal joint contracture of finger Patent foramen ovale Decreased fertility Redundant skin Abnormality of vision Plagiocephaly Slender long bone Abnormality of the metaphysis Thickened ears Calcification of falx cerebri Small abnormally formed scapulae Multicystic kidney dysplasia Shortening of all phalanges of the toes Poorly ossified cervical vertebrae Anterior tibial bowing Relative macrocephaly Pterygium Bowing of the legs Bilateral talipes equinovarus Shortening of all phalanges of fingers Tibial bowing Hypoplastic inferior ilia Cystic hygroma Absent sternal ossification Gonadal dysgenesis Hypoplastic cervical vertebrae Dilatation Skin dimples Sex reversal Hypoplastic scapulae Hypoplastic iliac wing Pierre-Robin sequence Male pseudohermaphroditism Glossoptosis Neonatal short-limb short stature Fibular hypoplasia Abnormality of the sense of smell Abnormal external genitalia Laryngotracheomalacia Tracheobronchomalacia Tracheomalacia Hypoplasia of olfactory tract Bowing of the long bones Hypospadias Thick lower lip vermilion Conductive hearing impairment Ovarian fibroma Decreased testicular size 11 pairs of ribs Plantar pits Odontogenic keratocysts of the jaw Thick eyebrow Bulbous nose Cardiac fibroma Talipes equinovarus Respiratory insufficiency Polyhydramnios High forehead Kyphoscoliosis Joint hypermobility Hydronephrosis Depressed nasal ridge Webbed neck Clinodactyly Delayed skeletal maturation Mandibular prognathia Hyperlordosis Postnatal growth retardation Ambiguous genitalia Recurrent fractures Blepharophimosis Small for gestational age Pulmonary hypoplasia Micromelia Flat face Talipes Confusion Disproportionate short-limb short stature Cognitive impairment Intellectual disability, mild Increased urinary taurine Decreased urinary sulfate Xanthine nephrolithiasis Sulfite oxidase deficiency Xanthinuria Increased urinary hypoxanthine Molybdenum cofactor deficiency Abnormal muscle tone Reduced xanthine dehydrogenase activity Hypouricemia Myoclonic spasms Lens luxation Axonal loss Opisthotonus Ectopia lentis Hemiplegia Increased urinary sulfite Increased urinary thiosulfate Progressive microcephaly Inability to walk Impulsivity Hyperbilirubinemia Paraparesis Bradycardia Postnatal microcephaly Apraxia Generalized tonic-clonic seizures Decreased urinary urate Attention deficit hyperactivity disorder Hypoglycemia Hypothyroidism Spasticity Ataxia Aldehyde oxidase deficiency Absent urinary urothione Spastic tetraparesis Tetraparesis Pontocerebellar atrophy Subcutaneous nodule Deep philtrum Sarcoma Melanoma Hypopigmented skin patches Neoplasm of the skin Generalized hirsutism Round face Hypermelanotic macule Nevus Broad nasal tip Abnormality of skin pigmentation Pruritus Papule Prominent forehead Neoplasm Melanocytic nevus Narrow nasal bridge Spastic tetraplegia Deeply set eye Neuronal loss in central nervous system Peripheral demyelination Brain atrophy Gliosis Long face Feeding difficulties in infancy Hyperreflexia Calvarial skull defect Nevus spillus Congenital giant melanocytic nevus Prominence of the premaxilla Epidermal nevus Cutaneous melanoma Narrow nasal ridge Thick hair Inverted nipples Ganglioneuroblastoma Abnormality of lateral ventricle Delayed speech and language development Encephalopathy Recurrent infections Intellectual disability, severe Optic atrophy Hepatomegaly Visual impairment Fused labia minora Developmental regression Bicoronal synostosis Pear-shaped nose Narrow pelvis bone Ulnar bowing Humeroradial synostosis Lambdoidal craniosynostosis Abnormal renal morphology Autism Abnormal pyramidal sign Upper airway obstruction Adducted thumb Abnormality of brain morphology Type I transferrin isoform profile Self-mutilation Poor eye contact Infantile spasms Global brain atrophy Microretrognathia Sleep disturbance Horizontal nystagmus Cerebral visual impairment Decreased body weight Hypsarrhythmia Abnormality of extrapyramidal motor function Epileptic encephalopathy Abnormal bleeding Vaginal atresia Hypoplastic labia majora Cryptorchidism Dandy-Walker malformation Cutis marmorata Failure to thrive in infancy Lissencephaly Left ventricular hypertrophy Small nail Ventricular hypertrophy Bifid uvula Severe failure to thrive Macroglossia Thin vermilion border Hypertrophic cardiomyopathy Retrognathia Obesity Hernia Cardiomyopathy Protruding tongue Skull asymmetry Choanal stenosis Abnormality of the genitourinary system Stenosis of the external auditory canal Coronal craniosynostosis Esophageal atresia Slender finger Malnutrition Multiple joint contractures Radioulnar synostosis Choanal atresia Recurrent respiratory infections Progressive neurologic deterioration Arachnodactyly Craniosynostosis Respiratory tract infection Camptodactyly Respiratory failure Brachycephaly Increased vertebral height



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