Hydrocephalus, and Anteverted nares

Diseases related with Hydrocephalus and Anteverted nares

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

Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Other less relevant matches:

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.

PROTEUS-LIKE SYNDROME Is also known as cohen-hayden syndrome

Related symptoms:

  • Intellectual disability
  • Cataract
  • Myopia
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about PROTEUS-LIKE SYNDROME

Medium match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Anteverted nares

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Anteverted nares. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short nose Depressed nasal bridge Low-set ears Generalized hypotonia Microcephaly High palate Abnormal facial shape Deep philtrum Microphthalmia Upslanted palpebral fissure Midface retrusion Protruding ear Open mouth Broad forehead Spasticity

Rare Symptoms - Less than 30% cases

Delayed speech and language development Hypotelorism Oral cleft Feeding difficulties Short stature Retrognathia Holoprosencephaly Single median maxillary incisor Cryptorchidism Micrognathia Malar flattening Flat occiput Communicating hydrocephalus Wide nasal bridge Epicanthus Thin upper lip vermilion Ventricular septal defect Hernia Umbilical hernia Blepharophimosis Muscular hypotonia Downslanted palpebral fissures Hypoplasia of the corpus callosum Frontal bossing Agenesis of corpus callosum Facial asymmetry Inability to walk Delayed myelination Plagiocephaly Absent speech Mandibular prognathia Macrotia Failure to thrive Epidermal nevus Round face Cleft palate Prominent forehead Long philtrum Broad nasal tip Hypoglycemia Pansynostosis Lambdoidal craniosynostosis Craniofacial dysostosis Ectopic posterior pituitary Clumsiness Prominent scalp veins Round ear Diminished ability to concentrate Agammaglobulinemia Shawl scrotum Apnea Apraxia Generalized tonic-clonic seizures Protruding tongue Dimple chin Bronchitis Ataxia Hypothyroidism Attention deficit hyperactivity disorder Posterior plagiocephaly Arnold-Chiari type I malformation Chronic bronchitis Cellular immunodeficiency Short palpebral fissure Short chin Spastic tetraparesis Abnormality of neutrophils Anophthalmia Bicornuate uterus Decrease in T cell count Abnormality of chromosome stability Hypoplastic left atrium Hypertonia Proptosis Stomatocytosis Telecanthus Craniosynostosis Downturned corners of mouth Small hand Microretrognathia Increased intracranial pressure Optic nerve hypoplasia External ear malformation Malnutrition Anterior plagiocephaly Combined immunodeficiency Postnatal microcephaly Recurrent pneumonia Abnormal pupil morphology Open bite Malabsorption Irregular hyperpigmentation Respiratory tract infection High forehead Exostoses Genu recurvatum Heterochromia iridis Recurrent respiratory infections Lower limb asymmetry Venous insufficiency Congenital diaphragmatic hernia Epibulbar dermoid Subcutaneous lipoma Pneumonia Shagreen patch Hypospadias Abnormality of the parathyroid gland Thymus hyperplasia Recurrent infections Bronchogenic cyst Anemia Diarrhea Flat face Hyperostosis Immunodeficiency Impulsivity Bradycardia Lymphopenia Sinusitis Paraparesis Bronchiectasis Otitis media Hyperbilirubinemia Decreased antibody level in blood Laryngomalacia Sepsis Inverted nipples Polycystic ovaries Pontocerebellar atrophy Ganglioneuroblastoma Cataract Myopia Splenomegaly Skeletal dysplasia Dolichocephaly Retinal detachment Hemangioma Macroglossia Neurodegeneration Tetraparesis Median cleft lip Chorea Abnormality of digit Intellectual disability, severe Coloboma Hypermetropia Synophrys Astigmatism Microcornea Narrow forehead Exotropia Trigonocephaly Absent thumb Facial cleft Ptosis Scaphocephaly Cyclopia Proboscis Small posterior fossa Exencephaly Scoliosis Atrial septal defect Polyhydramnios Coarse facial features Abnormal cardiac septum morphology Abnormality of the skeletal system Nevus spillus Premature birth Hypopigmented skin patches Neoplasm Papule Pruritus Abnormality of skin pigmentation Everted lower lip vermilion Full cheeks Nevus Subcutaneous nodule Generalized hirsutism Neoplasm of the skin Melanoma Congenital giant melanocytic nevus Sarcoma Melanocytic nevus Hypermelanotic macule Narrow nasal bridge Calvarial skull defect Periorbital fullness Rhabdomyosarcoma Thick hair Narrow nasal ridge Cutaneous melanoma Prominence of the premaxilla Thick eyebrow Overgrowth Wide nose Semilobar holoprosencephaly Partial agenesis of the corpus callosum Bilateral cleft lip Depressed nasal tip Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Midline defect of the nose Parietal bossing Alobar holoprosencephaly Dental malocclusion Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Dystonia Brachycephaly Muscular hypotonia of the trunk Sparse hair Severe global developmental delay Pulmonary hypoplasia Omphalocele Prominent nose Tall stature Joint hypermobility Narrow palpebral fissure Long palpebral fissure Short columella Maternal diabetes Everted upper lip vermilion Premature rupture of membranes Visual impairment Ventriculomegaly Pectus excavatum Poor speech Delayed gross motor development Highly arched eyebrow Tented upper lip vermilion Broad hallux Prominent metopic ridge Facial hypotonia Abnormal hair whorl Abnormality of the orbital region Deviation of the 5th finger Brachydactyly Cleft lip Smooth philtrum Iris coloboma Impaired T cell function


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