Micrognathia, and Polycystic kidney dysplasia

Diseases related with Micrognathia and Polycystic kidney dysplasia

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Micrognathia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME 13; MKS13

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016).

GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS Is also known as polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS

Other less relevant matches:

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

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A

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

Top 5 symptoms//phenotypes associated to Micrognathia and Polycystic kidney dysplasia

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormality of the kidney Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Hepatic fibrosis Seizures Cryptorchidism Hernia Dilatation Agenesis of corpus callosum Microcephaly Global developmental delay Radial deviation of finger Abnormal heart morphology Polydactyly Muscular hypotonia Pulmonary hypoplasia Frontal bossing Postaxial polydactyly Clinodactyly Oligohydramnios Syndactyly Renal dysplasia Abnormal facial shape Cleft lip Anteverted nares Generalized hypotonia Short neck Low-set, posteriorly rotated ears Flexion contracture Short stature High palate Hydronephrosis Retrognathia Molar tooth sign on MRI Wide nasal bridge High forehead Hepatomegaly Posteriorly rotated ears Respiratory distress Renal insufficiency Failure to thrive Lobulated tongue

Rare Symptoms - Less than 30% cases

Hydrocephalus Brachydactyly Downslanted palpebral fissures Tremor Abnormal cerebellum morphology Renal agenesis Myelomeningocele Meningocele Neoplasm Ptosis Depressed nasal bridge Hypospadias Micropenis Dolichocephaly Apnea Macroglossia Intellectual disability, severe Talipes equinovarus Cataract Nystagmus Occipital meningocele Foot polydactyly Hamartoma Inguinal hernia Preaxial polydactyly Spina bifida Abnormality of the genital system Dandy-Walker malformation Congenital diaphragmatic hernia Webbed neck Cleft upper lip Talipes Patent ductus arteriosus Intrauterine growth retardation Hypothalamic hamartoma Tongue nodules Microretrognathia Oral cleft Sloping forehead Splenomegaly Portal fibrosis Hepatic cysts Pancreatic cysts Renal hypoplasia/aplasia Renal cyst Stage 5 chronic kidney disease Hepatosplenomegaly Ventricular septal defect Abnormality of cardiovascular system morphology Hypertension Occipital encephalocele Oculomotor apraxia Encephalocele Apraxia Cerebellar hypoplasia Ataxia Periportal fibrosis Enlarged kidney Prominent nasal bridge Underdeveloped nasal alae Telecanthus Smooth philtrum Toe syndactyly Flat forehead Hypochromic anemia Asymmetry of the thorax Hypochromic microcytic anemia Brain neoplasm Aplasia/Hypoplasia of the earlobes Hemoglobin H Osteosarcoma Protruding tongue Underdeveloped supraorbital ridges Microcytic anemia Reduced alpha/beta synthesis ratio Neurocytoma Triangular nasal tip Hamartoma of tongue Supernumerary nipple Scoliosis Macrocephaly Edema Short nose Cerebral atrophy Abnormal oral frenulum morphology Prominent forehead Polyhydramnios Deeply set eye Muscular hypotonia of the trunk Accessory oral frenulum Aplasia/Hypoplasia of the eyebrow Short toe Mesoaxial polydactyly Growth delay Intrahepatic biliary dysgenesis Stippled chondral calcification Absent speech Anemia Midline notch of upper alveolar ridge Fatigue Long philtrum Malar flattening Obesity Gait disturbance Fever Intellectual disability, moderate Pectus carinatum Microtia Broad forehead Abnormality of the pinna Prominent xiphoid process Neurological speech impairment Congenital cataract Distal ileal atresia Bruising susceptibility Ileal atresia Dental crowding Y-shaped metacarpals Mesoaxial hand polydactyly Hypoplasia of olfactory tract Nephrogenic rest Bulimia Episodic tachypnea Renal hamartoma Hyperlordosis Preaxial foot polydactyly Flat face Aplasia/Hypoplasia of the corpus callosum Capillary hemangioma Polysplenia Tachypnea Renal neoplasm Thick upper lip vermilion Volvulus Hypoxemia Thickened helices Visceromegaly Interrupted aortic arch Abnormality of the nervous system Femoral hernia Intestinal atresia Broad alveolar ridges Finger clinodactyly Neurodevelopmental delay Brushfield spots Pancreatic islet-cell hyperplasia Long upper lip Lumbar scoliosis Abnormality of upper lip Cerebellar vermis hypoplasia Fetal ascites Feeding difficulties in infancy Thymus hyperplasia Esotropia Nephroblastomatosis Broad nasal tip Abnormality of pancreas morphology Highly arched eyebrow Hand polydactyly Global brain atrophy Long face Abnormal retinal morphology Short femur Hypoplasia of the abdominal wall musculature High, narrow palate Ascites Abdominal distention Round face Specific learning disability Biparietal narrowing Partial agenesis of the corpus callosum Conductive hearing impairment Overgrowth Abnormality of the cardiovascular system Tibial bowing Hypoplasia of penis Cardiomegaly Large for gestational age Lumbar hyperlordosis Abnormality of neuronal migration Status epilepticus Preaxial hand polydactyly Bilateral cryptorchidism Open mouth Tall stature Bilateral single transverse palmar creases Tented upper lip vermilion Growth abnormality Trigonocephaly Naevus flammeus of the eyelid Hyperinsulinemia Nephroblastoma Elevated long chain fatty acids Bile duct proliferation Optic nerve dysplasia Abnormality of the cerebral white matter Flared metaphysis Long palpebral fissure Aniridia Abnormal lung lobation Double outlet right ventricle Ulnar deviation of the hand Large fleshy ears Hearing impairment Dysarthria Abnormality of the dentition Depressivity Alopecia Proteinuria Sparse hair Carious teeth Short long bone Increased number of teeth Ovarian cyst Abnormality of the pancreas Bifid tongue Abnormal cortical gyration Arachnoid cyst Median cleft lip Atrioventricular canal defect Facial asymmetry Nephronophthisis Agenesis of permanent teeth Milia Cutaneous syndactyly Hypoplasia of dental enamel Bifid uvula Multiple joint contractures Convex nasal ridge Porencephalic cyst Multiple renal cysts Retinopathy Respiratory insufficiency Atrial septal defect Congestive heart failure Respiratory failure Macrotia Abnormality of the liver Scarring Dehydration Depressed nasal ridge Cholestasis Abnormal lung morphology Chronic kidney disease Portal hypertension Chronic lung disease Skeletal dysplasia Potter facies Brachycephaly Thrombocytopenia Abnormality of the skeletal system Absence of renal corticomedullary differentiation Azotemia Hypoplasia of the ear cartilage Hematemesis Atelectasis Hypersplenism Biliary tract abnormality Tubulointerstitial fibrosis Congenital hepatic fibrosis Cholangitis Esophageal varix Dry hair Deviation of finger Abnormality of the mitochondrion Camptodactyly Meningoencephalocele Urethral atresia Neural tube defect Cerebral hypoplasia Urethral obstruction Hypoplasia of the bladder Elevated amniotic fluid alpha-fetoprotein Olfactory lobe agenesis Large placenta Craniorachischisis Areflexia Upslanted palpebral fissure Acidosis Jaundice Developmental regression Ambiguous genitalia, female Cubitus valgus Hypoplasia of the thymus Abnormality of the helix Turricephaly Palpebral edema Metatarsus adductus Clitoral hypertrophy Poor suck Single transverse palmar crease Intellectual disability, progressive Opacification of the corneal stroma Aminoaciduria Joint contracture of the hand Large fontanelles Pigmentary retinopathy Elevated alpha-fetoprotein Accessory spleen Narrow naris Abnormal cardiac septum morphology Coarctation of aorta Hypotelorism Postaxial hand polydactyly Intestinal malrotation Iris coloboma Anal atresia Wide mouth Bowing of the long bones Microphthalmia Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Omphalocele Spontaneous abortion Cerebellar dysplasia Single umbilical artery Ambiguous genitalia, male Cystic renal dysplasia Abnormality of the larynx Abnormality of the uterus Breech presentation Asplenia Adrenal hypoplasia Multicystic kidney dysplasia Abnormality of the ureter Anencephaly Natal tooth External genital hypoplasia Hydroureter Arnold-Chiari malformation Central Y-shaped metacarpal


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