Hydrocephalus, and Downturned corners of mouth

Diseases related with Hydrocephalus and Downturned corners of mouth

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

Top matches:

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

Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome|tmip|mirror-image polydactyly|fibula and ulna, duplication of, with absence of tibia and radius|mip|mirror hands and feet with nasal defects|sandrow syndrome|tetramelic mirror-image polydactyly

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LAURIN-SANDROW SYNDROME

Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation SyndromeSee also HPMRS2 (OMIM ), caused by mutation in the PIGO gene (OMIM ) on chromosome 9p13; HPMRS3 (OMIM ), caused by mutation in the PGAP2 gene (OMIM ) on chromosome 11p15; HPMRS4 (OMIM ), caused by mutation in the PGAP3 gene (OMIM ) on chromosome 17q12; HPMRS5 (OMIM ), caused by mutation in the PIGW gene (OMIM ) on chromosome 17q12; and HPMRS6 (OMIM ), caused by mutation in the PIGY gene (OMIM ) on chromosome 4q22.Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between HPMRS and MCAHS (see, e.g., {614080}), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME Is also known as mabry syndrome|glycosylphosphatidylinositol biosynthesis defect 2|gpibd2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME

Other less relevant matches:

Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by Roifman et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 Is also known as robinow dwarfism|acral dysostosis with facial and genital abnormalities|fetal face syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

High match ACROOSTEOLYSIS

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Downturned corners of mouth

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Downturned corners of mouth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Malar flattening

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Brachydactyly

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures

Common Symptoms - More than 50% cases

Short neck

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Midface retrusion

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Prominent forehead Muscular hypotonia Thin vermilion border Hernia Cleft palate Depressed nasal bridge Short nose Scoliosis Generalized hypotonia Wide nose Umbilical hernia Retrognathia Long philtrum Cryptorchidism Telecanthus Narrow mouth Short toe Inguinal hernia Short distal phalanx of finger Coarse facial features Ventricular septal defect Wide nasal bridge Plagiocephaly Microcephaly Hydronephrosis Thin upper lip vermilion Highly arched eyebrow Sparse scalp hair Aortic valve stenosis Posteriorly rotated ears Joint hyperflexibility Upslanted palpebral fissure Brachycephaly High palate Full cheeks Cataract Peripheral neuropathy Kyphosis Osteoporosis Osteopenia Synophrys Intestinal malrotation Thickened skin Abnormality of the dentition Short palm Osteolysis Seizures Hypospadias Abnormality of cardiovascular system morphology Wide anterior fontanel Bowing of the long bones Skeletal dysplasia Patent ductus arteriosus Pectus excavatum Blepharophimosis Small hand Protruding ear Proptosis Dilatation Frontal bossing

Rare Symptoms - Less than 30% cases

Patellar dislocation Multiple renal cysts Syringomyelia Prominent occiput Open bite Ptosis Abnormality of the voice Hypoplasia of the corpus callosum Coarse hair Arnold-Chiari malformation Clinodactyly Abnormality of the fingernails Agenesis of corpus callosum Wormian bones Generalized hirsutism Periodontitis Abnormality of the skeletal system Mitral stenosis Partial absence of toe Macroglossia Cerebral calcification Large fontanelles Gingival overgrowth Narrow palate Abnormality of the genitourinary system Delayed cranial suture closure Skin ulcer Hypoplastic 5th lumbar vertebrae Mixed hearing impairment Absent frontal sinuses Rough bone trabeculation Platybasia Biconcave vertebral bodies Low anterior hairline Iris coloboma Narrow chest Short chin Hypertonia Scarring Broad face Dental malocclusion Self-injurious behavior Hypergonadotropic hypogonadism Delayed speech and language development Failure to thrive Aggressive behavior Conductive hearing impairment Deeply set eye Autism Neoplasm Pain Hypogonadism Hepatomegaly Bone pain Narrow palpebral fissure Recurrent fractures Respiratory failure Thick eyebrow Dry skin Delayed puberty Dolichocephaly Pectus carinatum Myopia Arthralgia Bilateral cryptorchidism Tracheomalacia Recurrent respiratory infections Headache Microretrognathia Splenomegaly Wide mouth Decreased skull ossification Behavioral abnormality Small nail Finger syndactyly Toe syndactyly Anteriorly placed anus Long palpebral fissure Elevated alkaline phosphatase Basilar impression Short foot Broad nasal tip Dysphagia Oral cleft Autistic behavior Depressed nasal ridge Mandibular prognathia Intellectual disability, severe Atrial septal defect Sensorineural hearing impairment Growth delay Intrauterine growth retardation Underdeveloped nasal alae Syndactyly Ventriculomegaly Respiratory distress Flexion contracture Renal neoplasm Laryngomalacia Short metatarsal Pyloric stenosis Nephroblastoma Melanocytic nevus Obsessive-compulsive behavior Mild short stature Supernumerary nipple Schizophrenia Overweight Low hanging columella Irregular vertebral endplates Abnormal palate morphology Multicystic kidney dysplasia Poor coordination Thoracic kyphosis Progressive gait ataxia Subvalvular aortic stenosis Dystrophic fingernails Broad columella Gait ataxia Abnormal aortic morphology Premature loss of permanent teeth Pain insensitivity Increased size of the mandible Self-biting Tics Metatarsus adductus Truncal obesity Anonychia Attention deficit hyperactivity disorder Arrhythmia Hyporeflexia Striae distensae Hip contracture Clinodactyly of the 5th finger Hyperactivity Congenital hypothyroidism Pes planus Sparse body hair Basal ganglia calcification Ankle clonus Feeding difficulties in infancy Sparse hair Basilar invagination Bilateral single transverse palmar creases Thick vermilion border Sleep disturbance Round face Short metacarpal Wide intermamillary distance Eczema Narrow forehead Congenital diaphragmatic hernia Broad-based gait Stereotypy Short phalanx of finger Sparse and thin eyebrow Generalized osteoporosis Flank pain Recurrent ear infections Bone cyst Abnormality of the skull Intellectual disability, mild Joint laxity Recurrent infections Hypertension Myopathy Hypoplasia of the maxilla Neurodegeneration Distal amyotrophy Gait disturbance Genu valgum Calcification of the auricular cartilage Hypothyroidism Hypoplasia of the zygomatic bone Respiratory tract infection Congenital cataract Restlessness Broad forehead Prominent nasal bridge Abnormal pyramidal sign Abnormality of the mandible Developmental regression Motor tics Skeletal muscle atrophy Macrotia Torus palatinus Ataxia Superiorly displaced ears Abnormality of the kidney Nevus Anemia Paraparesis Diabetes mellitus Pes cavus Spastic paraparesis Knee flexion contracture Ectopic calcification Respiratory arrest Narrow iliac wings Osteolytic defects of the phalanges of the hand Posterior scalloping of vertebral bodies Babinski sign Absent facial hair Abnormal glucose tolerance Glomerulonephritis Clonus Absent axillary hair Areflexia Polycystic kidney dysplasia Hematuria Gynecomastia Abnormal form of the vertebral bodies Joint hypermobility Paresthesia Thick lower lip vermilion Bradykinesia Hip dysplasia Microphthalmia Posterior polar cataract Otitis media Insulin-resistant diabetes mellitus Bronchomalacia Obesity Abnormality of the liver Infantile muscular hypotonia Aganglionic megacolon Tapered finger Inability to walk Cleft upper lip Anal atresia Severe global developmental delay Short philtrum Cleft lip Cupped ear Abnormality of the nervous system Constipation Absent speech Mirror image polydactyly Fibular duplication Limb duplication Rudimentary to absent tibiae Premature atrial contractions Tented upper lip vermilion Abnormally large globe Patellar aplasia Bulbous nose Hydroureter Hypophosphatemia Sleep apnea Increased bone mineral density Hypoplasia of dental enamel Choanal atresia Microdontia Pulmonary hypoplasia Micromelia Thickened helices Arthrogryposis multiplex congenita Apnea Dyspnea Depressivity Respiratory insufficiency Visual impairment Shortening of all distal phalanges of the fingers Delayed ossification of carpal bones Profound global developmental delay Absent tibia Abnormality of the nose Natal tooth Dimple chin Posterior plagiocephaly Pansynostosis Diminished ability to concentrate Round ear Prominent scalp veins Ectopic posterior pituitary Craniofacial dysostosis Lambdoidal craniosynostosis Stomatocytosis Polydactyly Anterior plagiocephaly Arnold-Chiari type I malformation External ear malformation Flat occiput Optic nerve hypoplasia Increased intracranial pressure Facial asymmetry Craniosynostosis Spasticity Talipes equinovarus Talipes Preaxial foot polydactyly Preaxial hand polydactyly Abnormality of the wrist Short columella Broad foot Absent radius Aplasia/Hypoplasia of the thumb Tarsal synostosis Hallux valgus Short middle phalanx of finger Triphalangeal thumb Postaxial polydactyly Hand polydactyly Preaxial polydactyly Abnormality of the metacarpal bones Aplasia/Hypoplasia of the corpus callosum Abnormality of the face Heterotopia Prominent nose Limitation of joint mobility Gliosis Thoracic hypoplasia Protruding tongue Feeding difficulties Recurrent urinary tract infections Radial deviation of finger Cone-shaped epiphysis Hemangioma Hemivertebrae Abnormal vertebral morphology Rhizomelia Dental crowding Long eyelashes Broad thumb Increased number of teeth Limb undergrowth Nail dysplasia Vesicoureteral reflux Hypodontia Delayed eruption of teeth Flat face Micropenis Delayed skeletal maturation Mesomelia Hypoplastic nipples Laryngeal hypoplasia Renal duplication Cognitive impairment Absent penis Right ventricular outlet obstruction Bifid distal phalanx of toe Short hard palate Duplication of the distal phalanx of hand Broad toe Aplasia of the middle phalanx of the hand Triangular mouth Shawl scrotum Clitoral hypoplasia Short middle phalanx of the 5th finger Elevated circulating follicle stimulating hormone level Bifid tongue Communicating hydrocephalus Misalignment of teeth Hypoplastic labia majora Capillary hemangioma Nevus flammeus Epicanthus Anotia Obstructive sleep apnea Alveolar ridge overgrowth Abnormality of the pinna Polyhydramnios Cerebellar hypoplasia Abnormal heart morphology Vomiting Cardiomyopathy Hypoplastic nasal bridge Craniofacial disproportion Metaphyseal sclerosis Abnormal cardiac septum morphology Bilateral choanal atresia Mandibular aplasia Brachyturricephaly Long hallux Median cleft lip and palate Gingival fibromatosis Generalized osteosclerosis Choanal stenosis Osteopetrosis Postnatal growth retardation Pulmonic stenosis Extramedullary hematopoiesis Hypoplastic left heart Endocardial fibroelastosis Entropion Redundant neck skin Abnormality of the larynx Cleft soft palate Tracheal stenosis Pierre-Robin sequence Double outlet right ventricle Neonatal respiratory distress Hirsutism Proximal placement of thumb Sparse eyelashes Pachygyria Abnormality of the genital system Short palpebral fissure Cerebellar vermis hypoplasia Oligohydramnios Abdominal distention Postural instability Osteolytic defects of the phalanges of the toes


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