Hydrocephalus, and Dental malocclusion

Diseases related with Hydrocephalus and Dental malocclusion

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

Top 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

Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.

ENDOSTEAL HYPEROSTOSIS, WORTH TYPE Is also known as ostÉosclÉrose autosomique dominante type worth|osteosclerosis, autosomal dominant|autosomal dominant osteosclerosis, worth type|hyperostosis corticalis generalisata, benign form of worth, with torus palatinus|worth syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Sensorineural hearing impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about ENDOSTEAL HYPEROSTOSIS, WORTH TYPE

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Other less relevant matches:

High match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Medium match CROUZON DISEASE

Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

Medium match MUENKE SYNDROME

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE 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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Dental malocclusion

Symptoms // Phenotype % cases
Midface retrusion Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Frontal bossing Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Dental malocclusion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Conductive hearing impairment Macrocephaly Short stature High palate Hearing impairment Increased intracranial pressure Downslanted palpebral fissures Proptosis Respiratory insufficiency Ptosis Cleft lip Acanthosis nigricans Anteverted nares Brachydactyly Cryptorchidism Malar flattening Strabismus Choanal stenosis Dental crowding Abnormal form of the vertebral bodies Mandibular prognathia Apnea Hypoplasia of the maxilla Sensorineural hearing impairment Depressed nasal bridge Brachycephaly High forehead Craniosynostosis Respiratory distress Global developmental delay Microcephaly Low-set ears Microphthalmia

Rare Symptoms - Less than 30% cases

Craniofacial dysostosis Hyperreflexia Failure to thrive Wormian bones Syndactyly Bowing of the long bones Short palm Hypospadias Abnormality of the skeletal system Large forehead Muscular hypotonia Cleft palate Abnormal cortical gyration Anophthalmia Wide nose Postaxial polydactyly Pulmonary hypoplasia Micropenis Abnormal cardiac septum morphology Polydactyly Paralysis Kyphoscoliosis Cloverleaf skull Abnormality of the dentition Abnormal sacrum morphology Turricephaly Proportionate short stature Melanocytic nevus Arnold-Chiari malformation Choanal atresia Bicoronal synostosis Convex nasal ridge Hypopigmentation of the skin Abnormal facial shape Prominent forehead Dysphagia Renal insufficiency Sleep apnea Hypopigmented skin patches Atresia of the external auditory canal Trigonocephaly Gonadal dysgenesis Gonadoblastoma Optic atrophy Visual impairment Lambdoidal craniosynostosis Feeding difficulties Epidermal acanthosis Coronal craniosynostosis Ventricular septal defect Panhypopituitarism Increased bone mineral density Abnormality of the ribs Facial palsy Hypertension Hypoplasia of the premaxilla Alobar holoprosencephaly Semilobar holoprosencephaly Single median maxillary incisor Median cleft lip and palate Bilateral microphthalmos Bilateral cleft lip and palate Diaphyseal thickening Bilateral cleft lip Median cleft lip Partial agenesis of the corpus callosum Holoprosencephaly Hypotelorism Iris coloboma Oral cleft Protruding ear Wide nasal bridge Macrotia Agenesis of corpus callosum Abnormality of pelvic girdle bone morphology Epicanthus Metatarsus adductus Calvarial skull defect Foot acroosteolysis Abnormality of the anus Bilateral renal agenesis Subglottic stenosis Vaginal atresia Bicornuate uterus Bilateral vocal cord paralysis Myelomeningocele Upper eyelid coloboma Postaxial foot polydactyly Absent eyelashes Foot polydactyly Anal stenosis Facial cleft Aplasia/Hypoplasia of the thumb Cutaneous finger syndactyly Absent eyebrow Laryngeal stenosis Abnormality of the thymus Clitoral hypertrophy Hypoplastic superior helix Absent frontal sinuses Abnormality of the small intestine Large sella turcica Severe T-cell immunodeficiency Wide pubic symphysis Basilar impression Midline nasal groove Lacrimal duct aplasia Cervical instability Basilar invagination Morphological abnormality of the middle ear Aplasia/Hypoplasia of the phalanges of the hand Laryngeal web Cryptophthalmos Cleft ala nasi Difficulty in tongue movements Urethral atresia Abnormality of the nares Cupped ear Abnormality of the urinary system Extension of hair growth on temples to lateral eyebrow Diaphragmatic eventration Respiratory failure requiring assisted ventilation Birth length greater than 97th percentile Slender toe Premature adrenarche Nocturnal hypoventilation Fractures of the long bones Cavernous hemangioma Spherocytosis Upslanted palpebral fissure Head tremor Facial diplegia Hypoventilation Neck muscle weakness Centrally nucleated skeletal muscle fibers Weak cry Hypokinesia Long fingers Hepatic hemangioma Blindness Renal hypoplasia/aplasia Underdeveloped nasal alae Cutaneous syndactyly Encephalocele Renal hypoplasia Oligohydramnios Ambiguous genitalia Serpentine fibula Renal agenesis Wide intermamillary distance Crowded carpal bones Elongated sella turcica Cleft upper lip Anal atresia Finger syndactyly Tall lumbar vertebral bodies Corneal opacity Abnormality of the pinna Abnormal heart morphology Short nose Laryngeal atresia Short nail Osteolysis Micrognathia Inguinal hernia Patent ductus arteriosus Hernia Recurrent infections Long philtrum Short neck Pain Growth delay Narrow mouth Thimble-shaped middle phalanges of hand Low-frequency sensorineural hearing impairment Unicoronal synostosis Short middle phalanx of toe Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly Craniofacial asymmetry Osteoporosis Osteopenia Abnormality of the head Renal cyst Narrow palpebral fissure Abnormal vertebral morphology Long eyelashes Abnormality of the face Intestinal malrotation Delayed cranial suture closure Full cheeks Recurrent fractures Hirsutism Skeletal dysplasia Thick eyebrow Joint hypermobility Genu valgum Synophrys Joint laxity Telecanthus Umbilical hernia Coarse facial features Parietal foramina Anterior plagiocephaly Malformed lacrimal duct Anxiety Vocal cord paralysis Febrile seizures Vertebral compression fractures Short foot High, narrow palate Neonatal respiratory distress Osteolytic defects of the phalanges of the hand Autistic behavior Clinodactyly Bradycardia Large earlobe Hypoplasia of the corpus callosum Cognitive impairment Abnormality of the umbilicus Generalized osteoporosis Aplasia/Hypoplasia of the sternum Biconcave vertebral bodies Platybasia Bilateral sensorineural hearing impairment Low anterior hairline Oxycephaly Broad hallux Aqueductal stenosis Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Carpal synostosis Esophageal atresia Hypopigmentation of hair Tarsal synostosis Hypermelanotic macule Short middle phalanx of finger Plagiocephaly Tracheoesophageal fistula Pathologic fracture Radial deviation of finger Vertebral fusion Dislocated radial head Premature loss of teeth Radial bowing Cone-shaped epiphysis Mask-like facies Decreased liver function Myotonia Abnormal cranial nerve morphology Elbow dislocation Genu varum Short long bone Disproportionate short-limb short stature Hyperostosis Osteomyelitis Clonus Rhizomelia Osteopetrosis Flared metaphysis Abnormality of the metaphysis Lumbar hyperlordosis Limb undergrowth Sudden cardiac death Abnormal cortical bone morphology Micromelia Joint hyperflexibility Narrow chest Chronic otitis media Mesomelia Joint stiffness Abnormality of the ilium Fusion of the left and right thalami Posteriorly rotated ears Flat nasal alae Nystagmus Cranial nerve paralysis Growth abnormality Elevated alkaline phosphatase Acromelia Childhood onset short-limb short stature Limited elbow extension Narrow sacroiliac notch Aplasia/hypoplasia of the extremities Long thorax Neonatal short-limb short stature Abnormality of the elbow Obstructive sleep apnea Spinal canal stenosis Disproportionate short stature Neurological speech impairment Hyperlordosis Dry skin Coarctation of aorta Skin tags Neurodevelopmental delay Torus palatinus Heart murmur Patent foramen ovale Optic nerve hypoplasia Hemivertebrae Preauricular skin tag Sloping forehead Thickened cortex of long bones Postaxial hand polydactyly Growth hormone deficiency Clavicular sclerosis Sclerotic vertebral body Metacarpal diaphyseal endosteal sclerosis Pulmonic stenosis Microtia Short philtrum Increased head circumference Anterior pituitary hypoplasia Craniofacial hyperostosis Dysarthria Generalized osteosclerosis Hyperhidrosis Severe short stature Obesity Kyphosis Ventriculomegaly Nasal obstruction Intrauterine growth retardation Flat forehead Wide cranial sutures Diastolic heart murmur Asymmetric ventricles Agenesis of incisor Anterior pituitary agenesis Short hard palate Single naris Underdeveloped tragus Thoracic hemivertebrae Prominent antihelix Absent nasal septal cartilage Nevus Ophthalmoparesis Areflexia Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Dolichocephaly Thin upper lip vermilion Polyhydramnios Dyspnea Respiratory failure Myopathy Long face Talipes equinovarus Fatigue Gait disturbance Skeletal muscle atrophy Myopia Flexion contracture Anemia Muscle weakness Arachnodactyly Inability to walk Generalized hypotonia EMG abnormality Pyloric stenosis Cholelithiasis Atrioventricular block Hemangioma External ophthalmoplegia Severe muscular hypotonia Accelerated skeletal maturation Nephrocalcinosis Narrow face Generalized muscle weakness Metatarsal diaphyseal endosteal sclerosis Progressive muscle weakness Nephrolithiasis Decreased fetal movement Hepatitis Hip dysplasia Waddling gait Abnormal bleeding Scoliosis Cartilaginous trachea Migraine Inflammatory abnormality of the eye Delayed puberty Cerebellar hypoplasia Headache Flat occiput Short uvula Membranous nephropathy Brachyturricephaly Depressed nasal tip Broad face Primary amenorrhea Aplasia/Hypoplasia of the cerebellum Glomerulonephritis Laryngomalacia Abnormality of the metacarpal bones Abnormal palate morphology Midline defect of the nose Parietal bossing Short metacarpal Amenorrhea Amblyopia Narrow internal auditory canal Abnormality of the skull Multiple suture craniosynostosis Dysgerminoma Abnormality of the nasopharynx Short upper lip Abnormality of the cervical spine Broad forehead Sagittal craniosynostosis Smooth philtrum Papilledema Narrow palate Shallow orbits Scaphocephaly Syringomyelia Keratitis Highly arched eyebrow Prominent nose Omphalocele Torticollis Conjunctivitis Cheyne-Stokes respiration


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