Microcephaly, and Polycystic kidney dysplasia

Diseases related with Microcephaly and Polycystic kidney dysplasia

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

Top matches:

Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 8; MKS8

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 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

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

Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease (Webb et al., 2017). Genetic Heterogeneity of Townes-Brocks SyndromeTownes-Brocks syndrome-2 (TBS2 ) is caused by mutation in the DACT1 gene (OMIM ) on chromosome 14q23.

TOWNES-BROCKS SYNDROME 1; TBS1 Is also known as deafness, sensorineural, with imperforate anus and thumb anomalies|anus, imperforate, with hand, foot, and ear anomalies|renal-ear-anal-radial syndrome|rear syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about TOWNES-BROCKS SYNDROME 1; TBS1

High match ROBERTS SYNDROME

Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

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

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Renal dysplasia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Cleft palate Abnormality of the kidney High palate Hypertelorism Short stature Epicanthus Flexion contracture Hydronephrosis Clinodactyly Agenesis of corpus callosum Polydactyly Radial deviation of finger Cryptorchidism Multicystic kidney dysplasia Global developmental delay Sloping forehead Oligohydramnios Hepatic fibrosis Microretrognathia Pain Malar flattening Hearing impairment Muscular hypotonia Cataract Facial asymmetry Patent ductus arteriosus Wide nasal bridge Downslanted palpebral fissures Renal insufficiency Syndactyly Dilatation Underdeveloped nasal alae Abnormality of the genital system Abnormality of cardiovascular system morphology Microphthalmia Abnormality of the pinna Posteriorly rotated ears Abnormal heart morphology Cleft lip Hernia Ventricular septal defect Cleft upper lip Retrognathia

Rare Symptoms - Less than 30% cases

Feeding difficulties Cystic renal dysplasia Arachnoid cyst Neoplasm Ptosis Obesity Long philtrum Postaxial hand polydactyly Hypospadias Neonatal hypotonia Postaxial polydactyly Stage 5 chronic kidney disease Hypoplastic toenails Microtia Myelomeningocele Vesicoureteral reflux Hepatic failure Wide mouth Webbed neck Abnormality of the outer ear Renal cyst Anal atresia Talipes Bowing of the long bones Spina bifida Bulbous nose Intrauterine growth retardation Knee flexion contracture Preaxial polydactyly 2-3 toe syndactyly Lobulated tongue Short thumb Sparse hair Intellectual disability, moderate Encephalocele Fatigue Anteverted nares High forehead Congestive heart failure Respiratory distress Intellectual disability, mild Ventriculomegaly Generalized hypotonia Underdeveloped supraorbital ridges Thrombocytopenia Broad forehead Brachycephaly Pulmonary hypoplasia Talipes equinovarus Prominent nasal bridge Telecanthus Clinodactyly of the 5th finger Overfolded helix Hypertension Occipital encephalocele Macrotia Frontal bossing Hydrocephalus Abnormality of the dentition Enlarged kidney Dental crowding Gastroesophageal reflux Brachydactyly Umbilical hernia Recurrent upper respiratory tract infections Poor head control Increased intracranial pressure Delayed CNS myelination Periorbital fullness Recurrent skin infections Prominent supraorbital ridges Hair-pulling Poor eye contact Heat intolerance Bruxism Abnormality of the periventricular white matter Palpebral edema Impaired pain sensation Concave nasal ridge Weak cry Cerebellar cortical atrophy Tongue thrusting Cellulitis Toenail dysplasia Fulminant hepatic failure Episodic vomiting Large hands Hyperorality Phocomelia Sacral dimple Hyporeflexia Irritability Aggressive behavior Anxiety Deeply set eye EEG abnormality Autism Hyperactivity Constipation Absent speech Protruding ear Midface retrusion Recurrent infections Headache Immunodeficiency Behavioral abnormality Diarrhea Vomiting Atrial septal defect Gait disturbance Midface capillary hemangioma Autistic behavior Accelerated skeletal maturation Broad-based gait Short chin Pointed chin Cerebral visual impairment Lymphedema Hypohidrosis Tall stature Chronic diarrhea Nephrolithiasis Long eyelashes Hepatitis Dolichocephaly Dental malocclusion Full cheeks Recurrent pyelonephritis High, narrow palate Thick vermilion border Thick eyebrow Unsteady gait Nausea and vomiting Hypermetropia Sleep disturbance Redundant skin Sensorineural hearing impairment Myocardial infarction Progressive flexion contractures Melanoma Hemangioma Sandal gap Opacification of the corneal stroma Wormian bones Bilateral single transverse palmar creases Aortic valve stenosis Hemiparesis Blue sclerae Radioulnar synostosis Premature birth Chest pain Falls Hypotrichosis Finger syndactyly Corneal opacity Craniosynostosis Paralysis Postnatal growth retardation Polyhydramnios Hypoplasia of the radius Clitoral hypertrophy Glaucoma Synostosis of carpal bones Long penis Subvalvular aortic stenosis Patellar aplasia Abnormality of the upper limb Fair hair Low hanging columella Capillary hemangioma Upper limb undergrowth Severe intrauterine growth retardation External ear malformation Absent radius Proximal placement of thumb Hip contracture Humeroradial synostosis Wrist flexion contracture Aplasia/Hypoplasia of the thumb Aplasia of the ulna Complete duplication of thumb phalanx Absent thumb Facial hemangioma Short femoral neck Absent earlobe Proptosis Nystagmus Hypoplasia of the corpus callosum Abnormal vertebral morphology Anal stenosis Overlapping toe Preauricular pit Tracheoesophageal fistula Preaxial hand polydactyly Bifid scrotum Chorioretinal coloboma Triphalangeal thumb Short metatarsal Preauricular skin tag Broad thumb Duodenal atresia Renal hypoplasia Bilateral sensorineural hearing impairment Tetralogy of Fallot Toe syndactyly Small for gestational age Coloboma Hypothyroidism Abdominal pain Visual loss Edema Truncus arteriosus Rectovaginal fistula Growth delay Metatarsal synostosis Pseudoepiphyses of second metacarpal Satyr ear Aplasia/Hypoplasia of the 3rd toe 2-4 finger syndactyly Stahl ear Mesomelic arm shortening Prominent scrotal raphe Pulmonary valve atresia Bilateral triphalangeal thumbs Rectoperineal fistula Overfolding of the superior helices Duane anomaly 3-4 toe syndactyly Urethral valve Bifid uterus 3-4 finger syndactyly Motor delay Radial club hand Tetraphocomelia Partial duplication of thumb phalanx Clinodactyly of the 5th toe Epibulbar dermoid Macrocephaly Nonketotic hypoglycemia Delayed speech and language development Alveolar ridge overgrowth Intestinal malrotation Iris coloboma Abnormal cardiac septum morphology Cerebellar hypoplasia Splenomegaly Trident hand Abnormality of toe Multiple glomerular cysts Gray matter heterotopias Dandy-Walker malformation Hypothalamic hamartoma Tongue nodules Narrow naris Deviation of finger Pancreatic cysts Hepatic cysts Porencephalic cyst Dry hair Ovarian cyst Renal agenesis Hypotelorism Bifid tongue Meningocele Portal fibrosis Ambiguous genitalia, male Bile duct proliferation Abnormality of the larynx Abnormality of the uterus Breech presentation Asplenia Single umbilical artery Adrenal hypoplasia Coarctation of aorta Foot polydactyly Abnormality of the ureter Anencephaly Natal tooth External genital hypoplasia Hydroureter Arnold-Chiari malformation Spontaneous abortion Omphalocele Abnormality of the pancreas Abnormal cortical gyration Accessory spleen Skeletal dysplasia Aniridia Long palpebral fissure Flared metaphysis Multiple joint contractures Short long bone Congenital diaphragmatic hernia Convex nasal ridge Smooth philtrum Abnormality of the skeletal system Double outlet right ventricle Abnormal facial shape Equinovarus deformity Hyperechogenic kidneys Pericardial effusion Anophthalmia Depressed nasal ridge Abdominal distention Narrow chest Short nose Abnormal lung lobation Ulnar deviation of the hand Median cleft lip Bifid uvula Increased number of teeth Atrioventricular canal defect Nephronophthisis Agenesis of permanent teeth Milia Molar tooth sign on MRI Cutaneous syndactyly Hypoplasia of dental enamel Abnormal cerebellum morphology Large fleshy ears Oral cleft Carious teeth Abnormality of the cerebral white matter Proteinuria Alopecia Depressivity Tremor Dysarthria Periportal fibrosis Cerebellar dysplasia Ambiguous genitalia, female Cognitive impairment Intracerebral periventricular calcifications Micropenis Depressed nasal bridge Anemia Failure to thrive Long-chain dicarboxylic aciduria Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Tapered toe Pectus carinatum Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Increased muscle lipid content Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Biventricular hypertrophy Low-set, posteriorly rotated ears Neurological speech impairment Long toe Hypochromic microcytic anemia Strabismus Neurocytoma Triangular nasal tip Hemoglobin H Reduced alpha/beta synthesis ratio Flat forehead Hypochromic anemia Asymmetry of the thorax Aplasia/Hypoplasia of the earlobes Congenital cataract Brain neoplasm Osteosarcoma Protruding tongue Microcytic anemia Aplasia/Hypoplasia of the eyebrow Supernumerary nipple Short toe Macroglossia Bruising susceptibility Abnormality of nervous system morphology Ureteral duplication Elevated alpha-fetoprotein Craniorachischisis Respiratory failure Prominent forehead Elevated serum creatine phosphokinase Arrhythmia Cardiomyopathy Respiratory insufficiency Hyperreflexia Hepatomegaly Occipital meningocele Hypoglycemia Large placenta Olfactory lobe agenesis Elevated amniotic fluid alpha-fetoprotein Hypoplasia of the bladder Urethral obstruction Cerebral hypoplasia Neural tube defect Urethral atresia Meningoencephalocele Acidosis Elevated hepatic transaminase Hypoketotic hypoglycemia Wide intermamillary distance Hypothermia Heart block Hyperkalemia Cerebral hemorrhage Ventricular arrhythmia Hyperammonemia Narrow palate Elbow flexion contracture Cardiomegaly Aciduria Apnea Coma Metabolic acidosis Tapered finger Hepatic steatosis Polymicrogyria Abnormality of the foot Lethargy Dilated cardiomyopathy Feeding difficulties in infancy Premature separation of centromeric heterochromatin


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