Abnormal facial shape, and Recurrent urinary tract infections

Diseases related with Abnormal facial shape and Recurrent urinary tract infections

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

Top matches:

Type 2 ADPKD is linked to gene mutation at the PKD2 locus on the long arm of CHROMOSOME 4.

POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2 Is also known as polycystic kidney disease, adult, type ii|apkd2

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Midface retrusion
  • Respiratory failure
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2

The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Other less relevant 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

EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EVEN-PLUS SYNDROME

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Recurrent urinary tract infections

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Short stature Multicystic kidney dysplasia Hydronephrosis Generalized hypotonia Microcephaly Renal hypoplasia Oligohydramnios Low-set ears Depressed nasal bridge Stage 5 chronic kidney disease Vesicoureteral reflux Abnormality of the kidney Abnormality of the dentition High forehead Myopia Hypertension Hearing impairment Ambiguous genitalia Abnormal cardiac septum morphology Protruding ear Atrial septal defect Telecanthus Growth delay Renal agenesis Highly arched eyebrow Hypoplastic helices Midface retrusion Microtia Autism

Rare Symptoms - Less than 30% cases

Mandibular prognathia High palate Nail dystrophy Agenesis of corpus callosum Overlapping toe Talipes equinovarus Hyperechogenic kidneys Sparse hair Ventricular septal defect Micrognathia Flat face Depressed nasal ridge Abnormality of the pinna Deep philtrum Long face Horseshoe kidney Hypertrichosis Narrow face Behavioral abnormality Abnormality of the urinary system Delayed speech and language development Feeding difficulties Seizures Hypertelorism Retrognathia Camptodactyly Blepharophimosis Anal atresia Scoliosis Unilateral renal agenesis Aplasia cutis congenita Facial asymmetry Hematuria Constipation Urethral stenosis Urethral valve Respiratory failure Dilatation Nephropathy Pyelonephritis Blindness Cutaneous syndactyly Abnormality of the fingernails Hyperconvex nail Narrow palpebral fissure Cupped ear Type I diabetes mellitus Tented upper lip vermilion Encephalitis Abnormality of the thorax Abnormality of the face 2-3 toe syndactyly Agenesis of permanent teeth Multiple lipomas Abnormality of the hair Aganglionic megacolon Narrow nasal bridge Thick lower lip vermilion Hypoplasia of penis Hypoplastic nipples Palpebral edema Short columella Abnormality of the antihelix Eyelid coloboma Abnormality of the endocrine system Abnormality of the nail Fine hair Self-injurious behavior Finger syndactyly Bifid nasal tip Coronal cleft vertebrae Anotia Vertebral clefting Dysplastic corpus callosum Dysplasia of the femoral head Cataract Syndactyly Hyperhidrosis Abnormality of fontanelles Coloboma U-Shaped upper lip vermilion Abnormal hemoglobin Hypohidrosis Congenital cataract Profound global developmental delay Dry skin Iris coloboma Volvulus Delayed eruption of teeth Nail dysplasia Male pseudohermaphroditism Abnormality of the skin Hypotelorism Absent nipple Dysphasia Aplasia/Hypoplasia of the nipples Macroglossia Ureteral duplication Focal impaired awareness seizure Atopic dermatitis Bilateral sensorineural hearing impairment Small nail Muscular hypotonia Large fontanelles Sparse and thin eyebrow Sensorineural hearing impairment Horizontal nystagmus Unicornuate uterus Pancreatic aplasia Renal hypoplasia/aplasia Schizophrenia Language impairment Anemia Pica Long fingers Shawl scrotum Ureteral atresia Upper limb undergrowth Aplasia of the vagina Ovarian cyst Hypoplasia of the bladder Abnormality of upper lip Ureterocele Maturity-onset diabetes of the young Aplasia of the uterus Long toe Short palm Hypermetropia Aplasia cutis congenita of scalp Underdeveloped antitragus Subcortical cerebral atrophy Everted lower lip vermilion Small earlobe Abnormality of movement Breast aplasia Bilateral renal hypoplasia Nausea and vomiting Bilateral camptodactyly Spastic paraplegia Underdeveloped tragus 3-4 finger cutaneous syndactyly Joint stiffness Feeding difficulties in infancy Gastroesophageal reflux Elevated hepatic transaminase Cerebral cortical atrophy Abnormality of the scalp Duplication of renal pelvis Clinodactyly of the 5th finger Downslanted palpebral fissures Depressivity Optic atrophy Frontal bossing Brachydactyly Flexion contracture Malar flattening Cerebral atrophy Diabetes mellitus Short foot Renal dysplasia Hypoplasia of the odontoid process Molar tooth sign on MRI Nocturnal lagophthalmos Ataxia Ptosis Visual impairment Rod-cone dystrophy Scarring Nyctalopia Progressive visual loss Apraxia Cerebellar vermis hypoplasia Oculomotor apraxia Cone/cone-rod dystrophy Failure to thrive Encopresis Intrauterine growth retardation Ventriculomegaly Respiratory distress Immunodeficiency Hernia Recurrent respiratory infections Polyhydramnios Small for gestational age Asthma Convex nasal ridge Decreased fetal movement Congenital diaphragmatic hernia Abnormal lung morphology Abnormal facial expression Urethral obstruction Clitoral hypertrophy Urinary incontinence Renal cyst Situs inversus totalis Polycystic kidney dysplasia Dextrocardia Elevated serum creatinine Hepatic cysts Renal cortical cysts Multiple glomerular cysts Pain Fever Proteinuria Sepsis Polydipsia Enuresis nocturna Clubbing Keratitis Polyuria Hydroureter Acute kidney injury Keratoconjunctivitis sicca Dysuria Enuresis Wolff-Parkinson-White syndrome Neurogenic bladder Urinary retention Facial grimacing Mild proteinuria Pachygyria Cortical gyral simplification Metaphyseal dysplasia Bifid ureter Thin upper lip vermilion Abnormality of the nervous system Autistic behavior Poor speech Spina bifida Spina bifida occulta Chronic kidney disease Ectopic kidney Poor eye contact Thickened helices Anteverted ears Uterus didelphys Decreased numbers of nephrons Hypoplasia of the corpus callosum Short neck Short nose Delayed skeletal maturation Severe short stature Brachycephaly Neonatal hypotonia Postnatal growth retardation Synophrys Hypodontia Inflammatory abnormality of the skin Abnormality of the outer ear Patent foramen ovale Epiphyseal dysplasia Micropenis Respiratory insufficiency Scaphocephaly Short palpebral fissure Recurrent lower respiratory tract infections Chronic lung disease Pulmonary artery hypoplasia Cleft palate Intellectual disability, mild Patent ductus arteriosus Abnormal heart morphology Upslanted palpebral fissure Deeply set eye Broad forehead Carious teeth Dental malocclusion Pointed chin Wide nasal bridge Premature ovarian insufficiency Long nose Low hanging columella Mild microcephaly High anterior hairline Perimembranous ventricular septal defect Velopharyngeal insufficiency Endometriosis Left-to-right shunt Muscular ventricular septal defect Thin lower lip vermilion Strabismus Motor delay Abnormality of the male genitalia


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