High palate, and Inguinal hernia

Diseases related with High palate and Inguinal hernia

In the following list you will find some of the most common rare diseases related to High palate and Inguinal hernia that can help you solving undiagnosed cases.

Top matches:

Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Flexion contracture
  • High palate
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 4; HKPX4

High match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Hypertension
  • Dilatation
  • Patent ductus arteriosus


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

Other less relevant matches:

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Inguinal hernia

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Inguinal hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Midface retrusion Downslanted palpebral fissures Microcephaly Arachnodactyly Pes planus Bruising susceptibility Abnormal facial shape Frontal bossing Narrow mouth Joint hypermobility Intellectual disability Generalized hypotonia Growth delay Failure to thrive Low-set ears Muscular hypotonia Intrauterine growth retardation Camptodactyly Congenital hip dislocation Cerebral atrophy

Rare Symptoms - Less than 30% cases

Hyperactivity Strabismus Tall stature Synophrys Neonatal hypotonia Hypospadias Long philtrum Prominent supraorbital ridges Edema Myalgia Protruding ear Blue sclerae Mitral valve prolapse Micropenis Hyperextensible skin Visual impairment Cleft palate Hearing impairment Cutis laxa Feeding difficulties Lissencephaly Short nose High myopia Hip dislocation Myopia Cryptorchidism Flexion contracture Severe global developmental delay Short stature Adducted thumb Recurrent fractures Umbilical hernia Joint hyperflexibility Hypertension Wide nasal bridge Short neck Intellectual disability, severe Recurrent infections Joint laxity Gastroesophageal reflux Osteopenia Hypoglycemia Vomiting Deeply set eye Respiratory insufficiency Elevated hepatic transaminase Retrognathia Abnormality of eye movement Abnormality of the eye Abnormality of the liver Cough Cirrhosis Hepatic steatosis Ascites Oligohydramnios Pancytopenia Cholestasis Abnormal lung morphology Anemia Oxycephaly Abnormal isoelectric focusing of serum transferrin Confusion Frontal encephalocele Aplasia of the nose Absent paranasal sinuses Respiratory failure Myoclonus Encephalopathy Abnormality of the skeletal system Anteverted nares Malar flattening Feeding difficulties in infancy Postnatal growth retardation Hypertonia Carious teeth Polymicrogyria Hypocalcemia Flat face Dandy-Walker malformation Respiratory distress Pachygyria Large fontanelles Wide anterior fontanel Tremor Coarse hair Growth abnormality Redundant skin Hyperreflexia Brittle hair Lipodystrophy Severe intrauterine growth retardation Decreased liver function Portal hypertension Tachypnea Hip dysplasia Hyperconvex nail Sensorineural hearing impairment Gait disturbance Abnormality of the dentition Pectus excavatum Visual loss Osteoporosis Glaucoma Conductive hearing impairment Pulmonic stenosis Retinal detachment Microcornea Abnormality of epiphysis morphology Limb joint contracture Corneal dystrophy Increased susceptibility to fractures Hallux valgus Keratoconus Megalocornea Soft skin Sclerocornea Corneal erosion Corneal scarring Shoulder dislocation Flat cornea Keratoglobus Decreased corneal thickness Broad alveolar ridges Abnormal hair pattern Hypoalbuminemia Cerebral cortical atrophy Abnormality of the sense of smell Rickets Interstitial pulmonary abnormality Bile duct proliferation Vitamin D deficiency Anasarca Vitamin A deficiency Small scrotum Nystagmus Spasticity Optic atrophy Agenesis of corpus callosum Coarse facial features Abnormally large globe Hirsutism Tapered finger Tetraplegia Spastic tetraplegia Abnormality of the genital system Renal dysplasia Low anterior hairline Generalized hirsutism Intellectual disability, progressive Renal hypoplasia/aplasia Overlapping toe Abnormality of the hip bone Infantile spasms Aplasia/Hypoplasia involving the nose Hypoplastic labia majora Lacrimal duct stenosis Abnormality of the voice Descending thoracic aorta aneurysm Abnormality iris morphology Descending aortic dissection Paroxysmal dyspnea Cystic medial necrosis of the aorta Muscle weakness Cat cry Pain Abnormality of bone mineral density High pitched voice Talipes equinovarus Myopathy Microretrognathia Abnormality of connective tissue Brachycephaly Preauricular skin tag Arthralgia Round face Telecanthus Scarring Talipes Small hand Generalized muscle weakness Mitral regurgitation Dental crowding Joint dislocation Carotid artery dilatation Prenatal maternal abnormality Finger syndactyly Abnormality of the sternum Patent ductus arteriosus Dilatation High, narrow palate Chest pain Cardiomegaly Aortic regurgitation Bicuspid aortic valve Ischemic stroke Aortic aneurysm Cutis marmorata Coronary artery atherosclerosis Exertional dyspnea Aortic root aneurysm Ascending aortic dissection Hemoptysis Dilatation of the cerebral artery Subarachnoid hemorrhage Transient ischemic attack Aortic dissection Peripheral arterial stenosis Left ventricular failure Pneumothorax Thoracic aortic aneurysm Hypovolemia Dural ectasia Abdominal aortic aneurysm Delayed gross motor development Patent foramen ovale Diastema Choanal atresia Hypogonadism Cleft lip Coloboma Corneal opacity Muscular dystrophy Kyphoscoliosis Delayed puberty Iris coloboma Hypoplasia of the maxilla Broad nasal tip Dental malocclusion Primary amenorrhea Encephalocele Rigidity Hypogonadotrophic hypogonadism Scrotal hypoplasia Anosmia Reduced number of teeth Limb-girdle muscular dystrophy Anophthalmia Preauricular pit Agenesis of permanent teeth Stroke Hyposmia Lacrimation abnormality Hypoplasia of teeth Microphthalmia Arthrogryposis multiplex congenita Bilateral talipes equinovarus Exaggerated startle response Fragile skin Facial hypotonia Hypoplasia of the musculature Low-set, posteriorly rotated ears Abnormality of cardiovascular system morphology Ventriculomegaly Hypoplasia of the corpus callosum Cerebellar atrophy Behavioral abnormality Epicanthus Clinodactyly of the 5th finger Prominent forehead Autism Delayed myelination High forehead Attention deficit hyperactivity disorder Wide nose Overgrowth Hypoplasia of penis Pointed chin Distal arthrogryposis Brisk reflexes Large for gestational age Disproportionate tall stature Hypsarrhythmia Cataract Abnormality of hair pigmentation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Narrow forehead, related diseases and genetic alterations Myopia and Apraxia, related diseases and genetic alterations Lymphoma and Hyporeflexia, related diseases and genetic alterations Edema and Autism, related diseases and genetic alterations Low-set ears and Dehydration, related diseases and genetic alterations Low-set ears and Pallor, related diseases and genetic alterations