Hydrocephalus, and Carious teeth

Diseases related with Hydrocephalus and Carious teeth

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

Top matches:

Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.

FOCAL FACIAL DERMAL DYSPLASIA TYPE IV Is also known as ffdd type iv|focal facial dermal dysplasia 4|focal facial preauricular dysplasia|ffdd4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Hydrocephalus
  • Cleft lip
  • Sparse hair


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE IV

High match GORLIN SYNDROME

Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 Is also known as osteopetrosis, osteoclast-poor|osteopetrosis, mild autosomal recessive form

Related symptoms:

  • Seizures
  • Short stature
  • Anemia
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2

Other less relevant matches:

High match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive|osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM Is also known as lenz-majewski syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Top 5 symptoms//phenotypes associated to Hydrocephalus and Carious teeth

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Carious teeth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Brachydactyly Mandibular prognathia Seizures Abnormality of the dentition Scoliosis Increased bone mineral density Osteopetrosis Micrognathia Macrocephaly Sparse hair Hypocalcemia Optic atrophy Anemia Osteomyelitis Failure to thrive Cryptorchidism Global developmental delay Hepatosplenomegaly Microcephaly Dermal atrophy Growth delay Facial paralysis Facial palsy Extramedullary hematopoiesis Cleft palate Cranial hyperostosis Bone marrow hypocellularity High palate Pancytopenia Nystagmus Recurrent fractures Prominent forehead Hepatomegaly Epicanthus Blindness Proptosis Splenomegaly Kyphosis

Rare Symptoms - Less than 30% cases

Abnormality of the metaphysis Short toe Abnormality of epiphysis morphology Bone pain High, narrow palate Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Growth hormone deficiency Generalized osteosclerosis Delayed eruption of teeth Short distal phalanx of finger Craniosynostosis High forehead Abnormality of the fingernails Progeroid facial appearance Increased susceptibility to fractures Low-set ears Hypoplasia of dental enamel Proteinuria Cutaneous syndactyly Agenesis of corpus callosum Dilatation Syndactyly Renal insufficiency Tremor Downslanted palpebral fissures Hypertension Choanal stenosis Thin skin Flared metaphysis Dry hair Visual loss Feeding difficulties Delayed eruption of primary teeth Delayed eruption of permanent teeth Relative macrocephaly Cleft lip Muscle weakness Increased intracranial pressure Agenesis of permanent teeth Osteoporosis Hyperostosis Macrotia Generalized hypotonia Short neck Severe short stature Genu valgum Cutis laxa Thrombocytopenia Visual impairment Postnatal growth retardation Persistence of primary teeth Limitation of joint mobility Telecanthus Brachycephaly Wide nasal bridge Reduced subcutaneous adipose tissue Cataract Thickened calvaria Coxa vara Bifid uvula Intrauterine growth retardation Sensorineural hearing impairment Abnormality of the skeletal system Mandibular osteomyelitis Delayed skeletal maturation Thick vermilion border Loss of facial adipose tissue Femoral hernia Hyperextensibility of the finger joints Symphalangism affecting the phalanges of the hand Abnormal cortical bone morphology Normal pressure hydrocephalus Broad ribs Prominent superficial veins Hypoplastic fingernail Premature skin wrinkling Increased cellular sensitivity to UV light Abnormality of finger Wide mouth Microglossia Decreased lacrimation Abnormal auditory evoked potentials Nasolacrimal duct obstruction Epispadias Abnormal nasolacrimal system morphology Hypoplastic iliac wing Lacrimal duct stenosis Humeroradial synostosis Hypogonadism Kyphoscoliosis Aplastic clavicle Severe photosensitivity Diaphyseal thickening Chordee Hypoplastic pelvis Joint laxity Hypoplasia of teeth Intellectual disability, moderate Submucous cleft hard palate Slender nose Anteriorly placed anus Specific learning disability Broad forehead Elbow flexion contracture Large fontanelles Muscular hypotonia Choanal atresia Finger syndactyly Hip dysplasia Abnormality of dental enamel Joint hyperflexibility Macroglossia Short palm Sclerosis of skull base Intellectual disability, mild Hernia Knee flexion contracture Inguinal hernia Hypospadias External genital hypoplasia Peripheral dysmyelination Prematurely aged appearance Square pelvis bone Absent septum pellucidum Aplasia/Hypoplasia of the skin Limited elbow extension Delayed cranial suture closure Cerebellar calcifications Short middle phalanx of finger Cerebral cortical atrophy Ivory epiphyses of the phalanges of the hand Abnormal peripheral myelination Redundant skin Patchy demyelination of subcortical white matter Subcortical white matter calcifications Cutis marmorata Hiatus hernia Hyperconvex fingernails Infantile muscular hypotonia Abnormality of the intervertebral disk Superior pectus carinatum Nasal speech Deep philtrum Abnormal location of ears Coarse hair Optic nerve hypoplasia Loose anagen hair Arnold-Chiari malformation Abnormal palate morphology Abnormality of the pulmonary artery Hoarse voice Hyperpigmentation of the skin Cafe-au-lait spot Mitral regurgitation Sparse scalp hair Thick lower lip vermilion Low posterior hairline Ventricular hypertrophy Coarctation of aorta Eczema Dermal translucency Thickened helices Dandy-Walker malformation Natal tooth Abnormality of the elbow Hypomagnesemia Abnormally large globe Enlarged cisterna magna Abnormality of the testis Broad neck Redundant neck skin Arnold-Chiari type I malformation Atopic dermatitis Freckling Peripheral pulmonary artery stenosis Neurodevelopmental delay Abnormality of coagulation Aplasia/Hypoplasia of the eyebrow Right bundle branch block Hypoplastic toenails Overfolded helix Failure to thrive in infancy Patent foramen ovale Abnormality of refraction Slow-growing hair Cyanosis Wide intermamillary distance Aplasia/Hypoplasia of the middle phalanges of the hand Lumbar kyphoscoliosis Cardiomyopathy Anteverted nares Ventriculomegaly Ventricular septal defect Delayed speech and language development Fragile nails Abnormal facial shape Stiff finger Progressive sclerosis of skull base Exodeviation Vomiting Facial hyperostosis Prominent scalp veins Proximal symphalangism of hands Proximal symphalangism Broad clavicles Calvarial hyperostosis Absent axillary hair Abnormality of the penis Elbow ankylosis Aplasia of the middle phalanx of the hand Atrial septal defect Broad fingertip Webbed neck Hypertrophic cardiomyopathy Thin vermilion border Joint hypermobility Ichthyosis Pulmonic stenosis Hypotrichosis Dolichocephaly Pectus carinatum Attention deficit hyperactivity disorder Low-set, posteriorly rotated ears Hypoglycemia Atypical scarring of skin Umbilical hernia Retrognathia Gastroesophageal reflux Hypothyroidism Hyperactivity Posteriorly rotated ears Patent ductus arteriosus Pectus excavatum Abnormality of cardiovascular system morphology Short nose Ptosis Lymphedema Severe failure to thrive Sleep apnea Spondylolisthesis Osteolytic defects of the phalanges of the hand Abnormality of the clavicle Abnormality of the vertebral column Prominent occiput Abnormality of dental morphology Abnormality of the thorax Back pain Osteolysis Small face Narrow palate Wormian bones Abnormality of the nail Abnormal vertebral morphology Abnormality of the face Small nail Blue sclerae Abnormality of the skin Ridged nail Low back pain Hypoplasia of the maxilla Ophthalmoparesis Sandwich appearance of vertebral bodies Secondary hyperparathyroidism Progressive macrocephaly Tetany Retinal atrophy Renal tubular acidosis Hyperparathyroidism Pathologic fracture Elevated alkaline phosphatase Abnormal pattern of respiration Aganglionic megacolon Decreased antibody level in blood Acidosis Abnormal pelvis bone ossification Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Absent frontal sinuses Prominent nose Hypodontia Depressivity Skin vesicle Neoplasm Abnormality of epidermal morphology Abnormality of buccal mucosa Abnormal mast cell morphology Fragmented elastic fibers in the dermis Abnormality of the cheek Unilateral cleft lip Aplasia cutis congenita Cupped ear Arachnodactyly Intracranial hemorrhage Hemangioma Short chin Hemiparesis Abnormal blistering of the skin Focal-onset seizure Nevus Cleft upper lip Scarring Glaucoma Iris coloboma Postural instability Chronic rhinitis due to narrow nasal airway Narrow chest Hyperlordosis Apnea Skeletal dysplasia Midface retrusion Malar flattening Cognitive impairment Pain Diaphyseal sclerosis Cerebral calcification Plantar pits Palmar pits Vertebral wedging Abnormality of the sense of smell Abnormality of the neck Vertebral fusion Melanocytic nevus Hemivertebrae Hypogonadotrophic hypogonadism Dysarthria Clinodactyly Hypoplasia of the iris Lumbar scoliosis Intellectual disability, severe Flexion contracture Spasticity Ataxia Abnormality of the vertebral endplates Tooth abscess Elevated serum acid phosphatase Abnormal leukocyte morphology Hip osteoarthritis Cerebral atrophy Fractures of the long bones Abnormal cranial nerve morphology Aseptic necrosis Rhinitis Cranial nerve paralysis Joint dislocation Recurrent urinary tract infections Osteoarthritis Ectodermal dysplasia Microphthalmia Arrhythmia Paralysis Dental malocclusion Abnormality of visual evoked potentials Basal ganglia calcification Anhidrosis Decreased nerve conduction velocity Opacification of the corneal stroma Abnormality of the hair Cutaneous photosensitivity Pigmentary retinopathy Microcornea Micropenis Polyneuropathy Abnormality of skin pigmentation Dry skin Congenital cataract Hypermetropia Small for gestational age Prominent nasal bridge Abnormality of the pinna Deeply set eye Neurodegeneration Arthritis Abnormal heart morphology Hepatic fibrosis Increased number of teeth Atrioventricular canal defect Nephronophthisis Milia Molar tooth sign on MRI Radial deviation of finger Polycystic kidney dysplasia Microretrognathia Underdeveloped nasal alae Arachnoid cyst Abnormal cerebellum morphology Postaxial polydactyly Stage 5 chronic kidney disease Oral cleft Facial asymmetry Abnormality of the cerebral white matter Abnormality of the kidney Polydactyly Alopecia Median cleft lip Myelomeningocele Pneumonia Hypothalamic hamartoma Recurrent infections Immunodeficiency Edema Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Tongue nodules Abnormal cortical gyration Lobulated tongue Narrow naris Deviation of finger Pancreatic cysts Hepatic cysts Porencephalic cyst Ovarian cyst Abnormality of the pancreas Bifid tongue Abnormality of the nasal bridge


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