High palate, and Polycystic kidney dysplasia

Diseases related with High palate and Polycystic kidney dysplasia

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

Top matches:

PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney DiseaseAlso see polycystic kidney disease-2 (PKD2 ), caused by mutation in the PKD2 gene (OMIM ) on chromosome 4q22; PKD3 (OMIM ), caused by mutation in the GANAB gene (OMIM ) on chromosome 11q13; PKD4 (OMIM ), caused by mutation in the PKHD1 gene (OMIM ) on chromosome 6p12; PKD5 (OMIM ), caused by mutation in the DZIP1L gene (OMIM ) on chromosome 3q22; and PKD6 (OMIM ), caused by mutation in the DNAJB11 gene (OMIM ) on chromosome 3q27.

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Is also known as apkd1|adpkd|polycystic kidney disease, adult|polycystic kidney disease, adult, type i|potter type iii polycystic kidney disease, formerly

Related symptoms:

  • Scoliosis
  • Pain
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Other less relevant matches:

High match BOR SYNDROME

Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR 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

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

High match PERLMAN SYNDROME

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Top 5 symptoms//phenotypes associated to High palate and Polycystic kidney dysplasia

Symptoms // Phenotype % cases
Renal insufficiency Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormality of the kidney Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Polycystic kidney dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Renal dysplasia Intellectual disability Muscular hypotonia Agenesis of corpus callosum Low-set ears Global developmental delay Generalized hypotonia Wide nasal bridge Hypertelorism Micrognathia Syndactyly Hydronephrosis Polydactyly Microcephaly Respiratory distress Multicystic kidney dysplasia Brachydactyly Abnormality of the pinna Hypospadias Cleft lip Hepatic failure Dolichocephaly Oral cleft Postaxial polydactyly Retrognathia Radial deviation of finger Short stature Frontal bossing High forehead Hearing impairment Posteriorly rotated ears Ptosis Dilatation Cryptorchidism Renal cyst Hernia Enlarged kidney High, narrow palate Hepatic fibrosis

Rare Symptoms - Less than 30% cases

Facial asymmetry Abnormal cerebellum morphology Abnormal heart morphology Clinodactyly Abnormality of the dentition Obesity Tremor Malar flattening Downslanted palpebral fissures Cardiomegaly Patent ductus arteriosus Arachnoid cyst Micropenis Intellectual disability, moderate Low-set, posteriorly rotated ears Inguinal hernia Macrocephaly Abnormal facial shape Macroglossia Renal hypoplasia/aplasia Abnormality of the genital system Dental crowding Molar tooth sign on MRI Gait disturbance Myelomeningocele Ventriculomegaly Feeding difficulties in infancy Apnea Neonatal hypotonia Hypoplastic toenails Hamartoma Pain Tall stature Prominent forehead Renal agenesis Neoplasm Failure to thrive Fatigue Absent speech Deeply set eye Depressed nasal bridge Hepatomegaly Feeding difficulties Anteverted nares Flexion contracture Cataract Long philtrum Hypothalamic hamartoma Tongue nodules Lobulated tongue Bulbous nose Oligohydramnios Scoliosis Vesicoureteral reflux Respiratory insufficiency Agenesis of permanent teeth Aplasia/Hypoplasia of the eyebrow Renal hypoplasia Ascites Pulmonary hypoplasia Sparse hair Edema Hepatic cysts Conductive hearing impairment Pancreatic cysts Cerebral hemorrhage Nephrolithiasis Stage 5 chronic kidney disease Headache Talipes equinovarus Hypertension Hydrocephalus Microdontia Bifid uvula Microtia Flat face Long face Diarrhea Autism Hyperactivity Hypoxemia Volvulus Thick upper lip vermilion Renal neoplasm Polysplenia Capillary hemangioma Neurodevelopmental delay 2-3 toe syndactyly Cellulitis Global brain atrophy Large for gestational age Nephroblastoma Hyperinsulinemia Growth abnormality Tented upper lip vermilion Bilateral single transverse palmar creases Thickened helices Interrupted aortic arch Visceromegaly Prominent supraorbital ridges Anxiety Naevus flammeus of the eyelid Abnormality of pancreas morphology Poor head control Nephroblastomatosis Thymus hyperplasia Recurrent skin infections Recurrent upper respiratory tract infections Fetal ascites Open mouth Abnormality of upper lip Lumbar scoliosis Long upper lip Large hands Pancreatic islet-cell hyperplasia Broad alveolar ridges Intestinal atresia Femoral hernia Weak cry Lumbar hyperlordosis Status epilepticus Fulminant hepatic failure Toenail dysplasia Cerebellar cortical atrophy Gastroesophageal reflux Hyperorality Polyhydramnios Tongue thrusting Cerebral atrophy Short nose Hair-pulling Periorbital fullness Umbilical hernia Neurocytoma Triangular nasal tip Hemoglobin H Reduced alpha/beta synthesis ratio Flat forehead Hypochromic anemia Asymmetry of the thorax Episodic vomiting Delayed CNS myelination Renal hamartoma Hyperlordosis Congenital diaphragmatic hernia Hypoplasia of penis Abnormality of the cardiovascular system Overgrowth Specific learning disability Round face Abdominal distention Smooth philtrum Muscular hypotonia of the trunk Hepatosplenomegaly Poor eye contact Impaired pain sensation Macrotia Palpebral edema Abnormality of the periventricular white matter Bruxism Heat intolerance Concave nasal ridge Hypoplasia of the abdominal wall musculature Nephrogenic rest Vomiting Autistic behavior Partial agenesis of the corpus callosum Tibial bowing Aggressive behavior Behavioral abnormality Irritability Intellectual disability, mild Aplasia/Hypoplasia of the earlobes Protruding ear Abnormal retinal morphology Foot polydactyly Hypermetropia Nausea and vomiting Unsteady gait Thick eyebrow Thick vermilion border Abnormality of neuronal migration Sleep disturbance Full cheeks Preaxial hand polydactyly Biparietal narrowing Meningocele Bilateral cryptorchidism Y-shaped metacarpals Atrial septal defect Ventricular septal defect Motor delay Delayed speech and language development Cognitive impairment Strabismus Central Y-shaped metacarpal Midline notch of upper alveolar ridge Occipital meningocele Short femur Mesoaxial hand polydactyly Hypoplasia of olfactory tract Bulimia Episodic tachypnea Mesoaxial polydactyly Hamartoma of tongue Abnormal oral frenulum morphology Accessory oral frenulum Preaxial foot polydactyly Dental malocclusion Trigonocephaly Ileal atresia Prominent xiphoid process Lymphedema Cerebral visual impairment Pointed chin Midface retrusion Fever Nystagmus Growth delay Ataxia Short chin Hypohidrosis EEG abnormality Accelerated skeletal maturation Hyporeflexia Sacral dimple Clinodactyly of the 5th finger Distal ileal atresia Abnormality of the outer ear Increased intracranial pressure Constipation Intellectual disability, severe Abnormality of the nervous system Hand polydactyly Long eyelashes Preaxial polydactyly Hepatitis Immunodeficiency Tachypnea Aplasia/Hypoplasia of the corpus callosum Oculomotor apraxia Finger clinodactyly Broad-based gait Cerebellar vermis hypoplasia Prominent nasal bridge Apraxia Dandy-Walker malformation Esotropia Broad nasal tip Recurrent infections Chronic diarrhea Highly arched eyebrow Cleft upper lip Toe syndactyly Hypochromic microcytic anemia Heart block Brain neoplasm Cupped ear Lacrimation abnormality Stenosis of the external auditory canal External ear malformation Mixed hearing impairment Premature graying of hair Ectopic kidney Preauricular pit Epiphora Atresia of the external auditory canal Lacrimal duct stenosis Congenital hip dislocation Narrow face Preauricular skin tag Atrial fibrillation Bilateral sensorineural hearing impairment Intestinal malrotation Paralysis Facial palsy Microphthalmia Ureteropelvic junction obstruction Overbite Myopia Unilateral renal hypoplasia Enlarged cochlear aqueduct Cholesteatoma Dilatated internal auditory canal Incomplete partition of the cochlea type II Abnormal lacrimal duct morphology Abnormality of the cerebrum Abnormality of the renal collecting system Lacrimal duct aplasia Euthyroid goiter Bilateral renal dysplasia Bilateral renal agenesis Renal steatosis Hypoplasia of the cochlea Cochlear malformation Renal malrotation Branchial fistula Arteria lusoria Branchial cyst Body odor Abnormality of the middle ear ossicles Dysphagia Sensorineural hearing impairment Dysarthria Cholelithiasis Congenital hepatic fibrosis Cholangitis Subarachnoid hemorrhage Dilatation of the cerebral artery Disproportionate tall stature Tricuspid regurgitation Aortic aneurysm Portal hypertension Chronic kidney disease Tricuspid valve prolapse Aortic regurgitation Recurrent urinary tract infections Mitral regurgitation Mitral valve prolapse Hematuria Arachnodactyly Stroke Joint laxity Pes planus Chronic pain Colonic diverticula Short uvula Short long bone Fused teeth Short lingual frenulum Bilateral postaxial polydactyly Thoracic dysplasia Flat acetabular roof Hypoplastic scapulae Cystic hygroma Mesomelia Thoracic hypoplasia Short ribs Abdominal aortic aneurysm Hydrops fetalis Bowing of the long bones Fine hair Limb undergrowth Nail dysplasia Short distal phalanx of finger Micromelia Narrow chest Cerebral berry aneurysm Gustatory lacrimation Depressivity Osteosarcoma Long toe Elevated long chain fatty acids Increased muscle lipid content Nonketotic hypoglycemia Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Biventricular hypertrophy Abnormality of nervous system morphology Ureteral duplication Hepatic calcification Cystic renal dysplasia Hypoketotic hypoglycemia Hypothermia Hyperkalemia Overfolded helix Ventricular arrhythmia Hyperammonemia Narrow palate Knee flexion contracture Basal ganglia cysts Decreased plasma free carnitine Sloping forehead Congenital cataract Protruding tongue Underdeveloped supraorbital ridges Microcytic anemia Supernumerary nipple Spina bifida Short toe Webbed neck Bruising susceptibility Talipes Neurological speech impairment Tapered toe Broad forehead Pectus carinatum Short neck Anemia Long-chain dicarboxylic aciduria Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Intracerebral periventricular calcifications Elbow flexion contracture Wide intermamillary distance Alopecia Atrioventricular canal defect Porencephalic cyst Dry hair Ovarian cyst Abnormality of the pancreas Bifid tongue Abnormal cortical gyration Median cleft lip Increased number of teeth Nephronophthisis Narrow naris Milia Cutaneous syndactyly Microretrognathia Hypoplasia of dental enamel Underdeveloped nasal alae Carious teeth Abnormality of the cerebral white matter Telecanthus Proteinuria Deviation of finger Gray matter heterotopias Aciduria Hypoglycemia Coma Metabolic acidosis Tapered finger Hepatic steatosis Polymicrogyria Abnormality of the foot Lethargy Dilated cardiomyopathy Elevated hepatic transaminase Acidosis Alveolar ridge overgrowth Respiratory failure Elevated serum creatine phosphokinase Arrhythmia Congestive heart failure Cardiomyopathy Hyperreflexia Trident hand Abnormality of toe Multiple glomerular cysts Recurrent pyelonephritis


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