Hydrocephalus, and Facial asymmetry

Diseases related with Hydrocephalus and Facial asymmetry

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

Top matches:

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

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

Other less relevant matches:

Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Medium match APERT SYNDROME

Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about APERT SYNDROME

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 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

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

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Facial asymmetry

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Frontal bossing Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Facial asymmetry. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Muscular hypotonia Anteverted nares Macrocephaly Agenesis of corpus callosum Low-set ears Sensorineural hearing impairment Plagiocephaly Hypertension Hearing impairment High palate Abnormality of cardiovascular system morphology Hypoplasia of the corpus callosum Generalized hypotonia Short nose Cleft palate Microretrognathia Abnormal facial shape Optic atrophy Depressed nasal bridge Failure to thrive Malar flattening Midface retrusion Prominent forehead Proptosis Abnormality of the skeletal system Microcephaly Craniosynostosis Strabismus Hernia

Rare Symptoms - Less than 30% cases

Myelomeningocele Communicating hydrocephalus Overgrowth Abnormal heart morphology Inguinal hernia Intellectual disability, mild Abnormality of the dentition Cryptorchidism Lambdoidal craniosynostosis Anterior plagiocephaly Arnold-Chiari type I malformation Arachnoid cyst Abnormal cardiac septum morphology Motor delay Micrognathia Ventricular septal defect Polydactyly Upslanted palpebral fissure Dilatation Wide nasal bridge Cognitive impairment Esophageal atresia Epicanthus Absent septum pellucidum Short stature Atrial septal defect Bifid uvula Broad forehead Brachydactyly Respiratory insufficiency Syndactyly Clinodactyly Abnormal cortical gyration Thin upper lip vermilion Radial deviation of finger Cleft lip Increased intracranial pressure Craniofacial asymmetry Small hand Hypertonia Toe syndactyly Finger syndactyly Wide mouth Arnold-Chiari malformation Cutis marmorata Hypermelanotic macule Neoplasm Polymicrogyria Broad hallux Abnormality of nervous system morphology Asymmetric growth Full cheeks Joint hypermobility Visual impairment Telecanthus Patent ductus arteriosus Coronal craniosynostosis Rocker bottom foot Short middle phalanx of toe Unicoronal synostosis Tricuspid regurgitation Mild short stature Thoracic hypoplasia External genital hypoplasia Anteriorly placed anus Growth delay Shallow orbits Patent foramen ovale Ventricular extrasystoles Secundum atrial septal defect Dysarthria Carpal synostosis Hypopigmentation of hair Tremor Renal insufficiency Low-frequency sensorineural hearing impairment Partial absence of the septum pellucidum Tarsal synostosis Depressivity Cone-shaped epiphyses of the phalanges of the hand Upper airway obstruction Capitate-hamate fusion Camptodactyly of finger Clinodactyly of the 5th finger Pes planus Neonatal hypotonia Long philtrum Joint laxity Low-set, posteriorly rotated ears Respiratory distress Abnormality of the eye Bicoronal synostosis Synostosis of carpals/tarsals Abnormality of the pinna Hemimegalencephaly Redundant skin Dolichocephaly Parietal foramina Intrauterine growth retardation Abnormality of the head Oxycephaly Aqueductal stenosis Triangular face Mitral valve prolapse Interphalangeal joint contracture of finger Short palpebral fissure Abnormality of vision Smooth philtrum Sparse hair Alopecia Alveolar ridge overgrowth Bradycardia Hepatic cysts Pancreatic cysts Deviation of finger Intraventricular hemorrhage Lobulated tongue Tongue nodules Hypothalamic hamartoma Gray matter heterotopias Epidermal acanthosis Bilateral sensorineural hearing impairment Febrile seizures Multiple glomerular cysts Porencephalic cyst Abnormality of toe Trident hand Ptosis Hyperreflexia Dysphagia Brachycephaly Anxiety Apnea Dental malocclusion Hypopigmentation of the skin Autistic behavior Short palm High, narrow palate Low anterior hairline Dry hair Proteinuria Short middle phalanx of finger Abnormality of the kidney Short foot Abnormality of the cerebral white matter Carious teeth Oral cleft Stage 5 chronic kidney disease Postaxial polydactyly Abnormal cerebellum morphology Underdeveloped nasal alae Hypoplasia of dental enamel Hepatic fibrosis Cutaneous syndactyly Polycystic kidney dysplasia Tracheoesophageal fistula Ovarian cyst Molar tooth sign on MRI Milia Agenesis of permanent teeth Cone-shaped epiphysis Trigonocephaly Hypopigmented skin patches Acanthosis nigricans Nephronophthisis Atrioventricular canal defect Increased number of teeth Median cleft lip Bifid tongue Abnormality of the pancreas Narrow naris Ovarian neoplasm Ureterocele Bicuspid aortic valve Flat occiput External ear malformation Stomatocytosis Dimple chin Craniofacial dysostosis Ectopic posterior pituitary Prominent scalp veins Round ear Diminished ability to concentrate Pansynostosis Posterior plagiocephaly Scoliosis Carcinoma Nephroblastoma Downturned corners of mouth Skeletal muscle hypertrophy Neurofibromas Multiple lipomas Impaired pain sensation Increased circulating cortisol level Hemihypertrophy Pheochromocytoma Adrenocortical adenoma Asymmetry of the thorax Hepatoblastoma Embryonal neoplasm Leiomyosarcoma Hemifacial hypertrophy Optic nerve hypoplasia Blepharophimosis Cerebellar hypoplasia Arrhythmia Absent speech Pectus excavatum Poor speech Inability to walk Delayed myelination Open mouth Delayed gross motor development Tented upper lip vermilion Prominent metopic ridge Facial hypotonia Abnormal hair whorl Abnormality of the orbital region Deviation of the 5th finger High forehead Protruding ear Deeply set eye Joint hyperflexibility Hand polydactyly Aplasia/Hypoplasia of the cerebellum Telangiectasia of the skin Foot polydactyly Nevus flammeus Arteriovenous malformation Cerebral ischemia Visceral angiomatosis Spasticity Delayed speech and language development Retrognathia Hemiareflexia Posteriorly rotated ears Metopic synostosis Thin vermilion border Corneal erosion Ectopic anus Cloverleaf skull Brachyturricephaly Morphological abnormality of the semicircular canal Cervical C5/C6 vertebrae fusion Acrobrachycephaly Hyperactivity Narrow mouth Jaundice Hydronephrosis Retinopathy Attention deficit hyperactivity disorder Vesicoureteral reflux Vertebral segmentation defect Urinary incontinence Hip dysplasia Pigmentary retinopathy Renal hypoplasia Short chin Aplasia/Hypoplasia of the corpus callosum Abnormality of the urinary system Sparse eyebrow Overfolded helix Obsessive-compulsive behavior Syringomyelia Narrow nose Broad face Aplasia/Hypoplasia of the thumb Narrow palate Polyhydramnios Relative macrocephaly Coloboma Hepatic failure Bulbous nose Pulmonary hypoplasia Iris coloboma Intestinal malrotation Dandy-Walker malformation Microdontia Congenital diaphragmatic hernia Cholestasis Heterotopia Wide anterior fontanel Lissencephaly Cortical gyral simplification Large fontanelles Colpocephaly Macular hypoplasia Severe hydrocephalus Periventricular gray matter heterotopia Mandibular prognathia Conductive hearing impairment Feeding difficulties in infancy Micromelia Flat face Delayed eruption of teeth Hypoplasia of the maxilla Convex nasal ridge Choanal atresia Broad thumb Thimble-shaped middle phalanges of hand


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