Microcephaly, and Recurrent urinary tract infections

Diseases related with Microcephaly and Recurrent urinary tract infections

In the following list you will find some of the most common rare diseases related to Microcephaly and Recurrent urinary tract infections that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations|beaulieu-boycott-innes syndrome|bbis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

Other less relevant matches:

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Medium match ISOLATED ANIRIDIA

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Top 5 symptoms//phenotypes associated to Microcephaly and Recurrent urinary tract infections

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and Recurrent urinary tract infections. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Cleft palate Abnormal facial shape Anteverted nares Arachnodactyly Hearing impairment Hypertelorism Micrognathia Depressivity Ventricular septal defect Intrauterine growth retardation Epicanthus Low-set ears Hypospadias Deeply set eye Macrotia Vesicoureteral reflux Horseshoe kidney Prominent nasal bridge Attention deficit hyperactivity disorder Autism Dilatation Pain Constipation Depressed nasal bridge Failure to thrive Generalized hypotonia Neoplasm Talipes equinovarus Immunodeficiency Choanal atresia Long face Atrial septal defect Respiratory failure Ambiguous genitalia Hydronephrosis Polyhydramnios Pneumonia Seizures Abnormality of the face Abnormal cardiac septum morphology Sensorineural hearing impairment Respiratory distress

Rare Symptoms - Less than 30% cases

Thin upper lip vermilion Otitis media Diarrhea Micropenis Abnormality of the nervous system Hypoplasia of the corpus callosum Respiratory insufficiency Blindness Inguinal hernia Ataxia Volvulus Abnormality of the kidney Intestinal pseudo-obstruction Flexion contracture Delayed speech and language development Midface retrusion Pollakisuria Ptosis Anemia Hypertension Vomiting Autistic behavior Renal dysplasia Oligohydramnios Abdominal pain Weight loss Premature birth Poor speech Deep philtrum Short neck Pointed chin Feeding difficulties Narrow face Abnormality of the dentition Myopia Gastroesophageal reflux Malar flattening Smooth philtrum Narrow chest Aortic aneurysm Vascular tortuosity Overgrowth Joint stiffness Congenital diaphragmatic hernia Convex nasal ridge Aganglionic megacolon Small for gestational age Abdominal distention Hernia Sinusitis Intellectual disability, moderate Upslanted palpebral fissure Strabismus High forehead Scoliosis Clinodactyly of the 5th finger Hypothyroidism Skeletal muscle atrophy Umbilical hernia Recurrent pneumonia Joint hyperflexibility Long nose Hyperactivity Premature ovarian insufficiency Hemolytic anemia Renal agenesis Agenesis of corpus callosum Anal atresia Hyperlordosis Broad forehead Blepharophimosis Retrognathia Brachydactyly Abnormality of neuronal migration Neuroblastoma Combined immunodeficiency Abnormal eyelid morphology Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Acute leukemia Non-midline cleft lip Hearing abnormality Acute lymphoblastic leukemia Anal stenosis Autoimmune hemolytic anemia Abnormality of the musculature Freckling Cachexia Lumbar kyphosis Low anterior hairline Hand tremor Lower limb hypertonia Abnormal glucose tolerance Ocular pain Decreased light- and dark-adapted electroretinogram amplitude Peters anomaly Hyposmia Ectopia pupillae Action tremor Hypoplasia of the fovea Hypoplasia of the iris Retinal vascular tortuosity Limb hypertonia Aniridia Hypopituitarism Adrenal insufficiency Albinism Anophthalmia Nephroblastoma Ectopia lentis Bilateral ptosis Anosmia Central hypothyroidism Macular hypoplasia Lymphopenia Lymphoma Abnormality of the hair Cafe-au-lait spot Telangiectasia Bronchiectasis Chronic diarrhea Primary amenorrhea Cutaneous photosensitivity Sloping forehead Amenorrhea Prominent nose Neurodegeneration Central adrenal insufficiency Cleft upper lip Leukemia Mental deterioration Thrombocytopenia Muscle weakness Increased proinsulin:insulin ratio Hypoplasia of the antihelix Aplasia/Hypoplasia of the macula Abnormal hair quantity Aphakia Rhabdomyosarcoma Truncus arteriosus Decrease in T cell count Aspiration Short metatarsal Hyperkinesis Disproportionate short-limb short stature Drooling Abnormality of the outer ear Joint dislocation Absence seizures Muscle stiffness Meningitis Rhizomelia Oral-pharyngeal dysphagia Encephalocele Lumbar hyperlordosis Limb undergrowth Short metacarpal Generalized myoclonic seizures Inability to walk Nausea Talipes Generalized tonic-clonic seizures Elbow dislocation Clubbing Anxiety Lethal skeletal dysplasia Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Fibular aplasia Coronal cleft vertebrae Fused cervical vertebrae Flat occiput 11 pairs of ribs Short femur Radial bowing Bell-shaped thorax Loss of speech Short humerus Atonic seizures Progressive spasticity Tibial bowing Spondyloepiphyseal dysplasia Respiratory tract infection Skeletal dysplasia B lymphocytopenia Toe syndactyly Oculomotor apraxia Coxa valga Bowing of the long bones Underdeveloped nasal alae Highly arched eyebrow High, narrow palate Short distal phalanx of finger Short palm Facial asymmetry Camptodactyly of finger Aortic regurgitation Pes planus Narrow mouth Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Sandal gap Pyloric stenosis Mandibular prognathia Hyperreflexia Proptosis Brachycephaly Severe short stature Recurrent infections Short nose Abnormality of the skeletal system Frontal bossing Gait disturbance Macrocephaly Spasticity Language impairment Branchial fistula Absent fingernail Absent toenail Abnormality of earlobe Ankyloglossia Tics Opacification of the corneal stroma Ulnar deviation of finger Bowel incontinence Obsessive-compulsive behavior Optic nerve hypoplasia Hydroureter Narrow palate Behavioral abnormality Everted lower lip vermilion Flat face Abnormality of movement Nausea and vomiting Spastic paraplegia Feeding difficulties in infancy Telecanthus Cerebral cortical atrophy Optic atrophy Hypoplasia of penis Muscular hypotonia Decreased numbers of nephrons Bifid ureter Urethral valve Hypoplastic helices Uterus didelphys Anteverted ears Hyperechogenic kidneys Macroglossia Thick lower lip vermilion Poor eye contact Abnormality of the male genitalia Pulmonic stenosis Hip dislocation Joint laxity Arthralgia Osteoporosis Arrhythmia Pectus excavatum Congestive heart failure Abnormality of fontanelles Depressed nasal ridge U-Shaped upper lip vermilion Abnormal hemoglobin Profound global developmental delay Male pseudohermaphroditism Dysphasia Self-injurious behavior Encephalitis Tented upper lip vermilion Thickened helices Ectopic kidney Full cheeks Cortical gyral simplification Camptodactyly Abnormal heart morphology Patent ductus arteriosus Intellectual disability, mild Pulmonary artery hypoplasia Chronic lung disease Recurrent lower respiratory tract infections Scaphocephaly Clitoral hypertrophy Dental malocclusion Multicystic kidney dysplasia Pachygyria Abnormal lung morphology Hypertrichosis Decreased fetal movement Asthma Protruding ear Ventriculomegaly Carious teeth Short palpebral fissure Chronic kidney disease Motor delay Abnormality of the urinary system Spina bifida occulta Spina bifida Renal hypoplasia Stage 5 chronic kidney disease Microtia Renal insufficiency Wide nasal bridge Thin lower lip vermilion Unilateral renal agenesis Muscular ventricular septal defect Left-to-right shunt Endometriosis Velopharyngeal insufficiency Perimembranous ventricular septal defect High anterior hairline Mild microcephaly Low hanging columella Overlapping toe Recurrent fractures Bilateral sensorineural hearing impairment Type I diabetes mellitus Barrett esophagus Tremor High palate Cataract Nystagmus Megaduodenum Hypoperistalsis Gastrointestinal obstruction Neuroma Urethral obstruction Kyphosis Megacystis Prune belly Microcolon Urinary retention Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Achalasia Hypertonia Microphthalmia Episodic abdominal pain Falls Exotropia Amblyopia Dental crowding Dandy-Walker malformation Microcornea Hypopigmentation of the skin Retinal detachment Polymicrogyria Congenital cataract Visual loss Coloboma Muscular hypotonia of the trunk Rigidity Reduced visual acuity Gait ataxia Glaucoma Diabetes mellitus Hypogonadism Chronic constipation Hyperparathyroidism Wormian bones Pulmonary artery stenosis Dermal translucency Ascending tubular aorta aneurysm Arterial stenosis Ileus Bladder diverticulum Cor pulmonale Atelectasis Premature skin wrinkling Shawl scrotum Supravalvular aortic stenosis Prematurely aged appearance Progressive sensorineural hearing impairment Delayed cranial suture closure Emphysema Epiphyseal dysplasia Redundant skin Shock Cutis laxa Congenital hemolytic anemia Arterial fibromuscular dysplasia Disproportionate tall stature Intestinal malrotation Anonychia Malnutrition Intestinal obstruction Portal hypertension Hypoalbuminemia External ophthalmoplegia Pancreatitis Interphalangeal joint contracture of finger Round face Bowel diverticulosis Ophthalmoplegia Abnormality of the liver Low-set, posteriorly rotated ears Abnormality of cardiovascular system morphology Myopathy Dysphagia Fever Peripheral neuropathy Renal diverticulum Distal tapering femur


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