Hypertelorism, and Recurrent urinary tract infections

Diseases related with Hypertelorism and Recurrent urinary tract infections

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


Top matches:

High match CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES


Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

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


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

High match OPITZ GBBB SYNDROME, TYPE I; GBBB1


The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

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Other less relevant matches:

High match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY 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

High match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

High 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

High match ALBERS-SCHÖNBERG OSTEOPETROSIS


Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

High match ATELOSTEOGENESIS, TYPE I; AO1


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

High match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX


ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

High match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1


Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by Roifman et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 Is also known as robinow dwarfism|acral dysostosis with facial and genital abnormalities|fetal face syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1

Top 5 symptoms//phenotypes associated to Hypertelorism 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
Depressed nasal bridge Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Abnormal facial shape Microcephaly Short stature Epicanthus Growth delay Low-set ears Gastroesophageal reflux Micrognathia Wide nasal bridge Midface retrusion Malar flattening Hearing impairment Short nose Frontal bossing Ambiguous genitalia Dilatation Pneumonia Proptosis Micropenis Brachydactyly Scoliosis Anemia Seizures Strabismus Hydronephrosis High palate Prominent forehead Telecanthus Agenesis of corpus callosum Vomiting Autism Thin upper lip vermilion Recurrent infections Macroglossia Flat face Constipation Hypospadias Blindness Delayed speech and language development Aspiration Flexion contracture Volvulus Sensorineural hearing impairment Downslanted palpebral fissures Talipes equinovarus Posteriorly rotated ears Feeding difficulties Macrotia Pain Umbilical hernia Hernia Macrocephaly

Rare Symptoms - Less than 30% cases


Hemivertebrae Optic atrophy Hypertonia Visual loss Hypogonadism Intellectual disability, moderate Clinodactyly Joint dislocation Dental malocclusion Dental crowding Shawl scrotum Radial deviation of finger Depressivity Narrow palate Abnormality of the skeletal system Increased number of teeth Mandibular prognathia Hypodontia Oral cleft Hydrocephalus Smooth philtrum Nystagmus Spasticity Hepatosplenomegaly Osteomyelitis Drooling Carious teeth Genu valgum Recurrent respiratory infections Thrombocytopenia Arachnodactyly Rhizomelia Limb undergrowth Abnormality of metabolism/homeostasis Lymphedema Recurrent pneumonia Intellectual disability, severe Short neck Visual impairment Ptosis U-Shaped upper lip vermilion Abnormal hemoglobin Male pseudohermaphroditism Skeletal dysplasia Tented upper lip vermilion Aganglionic megacolon Depressed nasal ridge Thick lower lip vermilion Abdominal pain Everted lower lip vermilion High forehead Abnormality of the dentition Renal dysplasia Inguinal hernia Large fontanelles Convex nasal ridge Renal agenesis Vesicoureteral reflux Poor speech Microtia Autistic behavior Abnormality of the kidney Hypoplasia of the corpus callosum Congenital diaphragmatic hernia Respiratory insufficiency Respiratory failure Triangular mouth Retrognathia Long philtrum Dysphagia Respiratory distress Ventricular septal defect Cleft palate Pectus excavatum Abnormality of the vertebral endplates Nausea Mandibular osteomyelitis Tooth abscess Elevated serum acid phosphatase Abnormal leukocyte morphology Inability to walk Failure to thrive Aplasia of the middle phalanx of the hand Broad toe Lumbar scoliosis Misalignment of teeth Abdominal distention Cranial hyperostosis Hip osteoarthritis Talipes Gait disturbance Renal duplication Polyhydramnios Respiratory tract infection Hyperlordosis Anxiety Bifid tongue Deeply set eye Elevated circulating follicle stimulating hormone level Weight loss Hyperreflexia Generalized tonic-clonic seizures Short middle phalanx of the 5th finger Narrow chest Brachycephaly Severe short stature Clitoral hypoplasia Communicating hydrocephalus Decreased serum testosterone level Generalized osteosclerosis Fractures of the long bones Edema Ectodermal dysplasia Recurrent fractures Neurodegeneration Short distal phalanx of finger Paralysis Facial palsy Arthritis Immunodeficiency Muscle weakness Osteoarthritis Increased proinsulin:insulin ratio Hypoplasia of the antihelix Aplasia/Hypoplasia of the macula Lumbar kyphosis Aphakia Central adrenal insufficiency Vascular tortuosity Macular hypoplasia Pancytopenia Right ventricular outlet obstruction Extramedullary hematopoiesis Increased susceptibility to fractures Duplication of the distal phalanx of hand Premature birth Facial paralysis Abnormal cranial nerve morphology Osteopetrosis Aseptic necrosis Rhinitis Hyperostosis Short hard palate Abnormality of the metaphysis Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Cranial nerve paralysis Bifid distal phalanx of toe Hypocalcemia Bone marrow hypocellularity Increased bone mineral density Bone pain Abnormality of epiphysis morphology Generalized myoclonic seizures Meningitis Short metacarpal Wide mouth Thoracic platyspondyly Endometriosis Multiple joint dislocation Hemoglobin H Hypoganglionosis Delayed skeletal maturation Laryngeal stenosis Upslanted palpebral fissure Scarring Multinucleated giant chondrocytes in epiphyseal cartilage Central hypothyroidism Aplasia/Hypoplasia of the ulna Short palm Long clavicles Wide nose Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Club-shaped proximal femur Distal tapering femur Fused cervical vertebrae Infantile muscular hypotonia Facial hypotonia Hypochromic microcytic anemia Protruding tongue Perimembranous ventricular septal defect Ileus Microcytic anemia Hydroureter Spastic diplegia Absent frontal sinuses Cerebral atrophy Coxa valga Abnormality of the genital system Tapered finger Widely-spaced maxillary central incisors Thick vermilion border Postnatal growth retardation Irritability Kyphoscoliosis Reduced alpha/beta synthesis ratio Lethal skeletal dysplasia 11 pairs of ribs Otitis media Long palpebral fissure Short metatarsal Hemangioma Cone-shaped epiphysis Hyperkinesis Disproportionate short-limb short stature Mesomelia Abnormality of the outer ear Absence seizures Hypoplastic nipples Short chin Nevus flammeus Muscle stiffness Chronic constipation Sinusitis Capillary hemangioma Encephalocele Lumbar hyperlordosis Hypoplastic labia majora Elbow dislocation Hypergonadotropic hypogonadism Downturned corners of mouth Loss of speech Small hand Delayed eruption of teeth Short femur Nail dysplasia Broad thumb Radial bowing Long eyelashes Bell-shaped thorax Short humerus Oral-pharyngeal dysphagia Atonic seizures Gingival overgrowth Progressive spasticity Tibial bowing Wide anterior fontanel Spondyloepiphyseal dysplasia Abnormal vertebral morphology Flat occiput Clubbing Retinal vascular tortuosity Ataxia Lower limb hypertonia Aspiration pneumonia Abnormality of the nasopharynx Right aortic arch Chylothorax Abnormality of the pharynx Pulmonary artery atresia Widow's peak Hydrocele testis Bilateral cleft lip and palate Bilateral cleft lip Bladder exstrophy Double outlet right ventricle Prominent metopic ridge Abnormality of the voice Intestinal malrotation Cleft upper lip Anal atresia Pectus carinatum Cleft lip Abnormal heart morphology Intestinal lymphangiectasia Recurrent aspiration pneumonia Abnormality of cardiovascular system morphology Nausea and vomiting Abnormality of the male genitalia Abnormality of fontanelles Profound global developmental delay Dysphasia Self-injurious behavior Encephalitis Abnormality of the face Hypoplasia of penis Abnormality of movement Spastic paraplegia Exstrophy Joint stiffness Feeding difficulties in infancy Cerebral cortical atrophy Clinodactyly of the 5th finger Behavioral abnormality Myopia Muscular hypotonia Posterior pharyngeal cleft Osteoma Patent ductus arteriosus Syndactyly Diarrhea Emphysema Bronchomalacia Rectal prolapse Periorbital edema Bladder diverticulum Peripheral pulmonary artery stenosis Premature skin wrinkling Pulmonary artery stenosis Tracheomalacia Prematurely aged appearance Patent foramen ovale Renal insufficiency Pyloric stenosis Laryngomalacia Cutis laxa Sandal gap Microretrognathia Sloping forehead Pulmonary hypoplasia Sparse hair Joint laxity Motor delay Abnormality of the nervous system Decreased numbers of nephrons Deep philtrum Bifid ureter Urethral valve Hypoplastic helices Uterus didelphys Anteverted ears Hyperechogenic kidneys Thickened helices Poor eye contact Ectopic kidney Chronic kidney disease Abnormal cardiac septum morphology Abnormality of the urinary system Spina bifida occulta Horseshoe kidney Spina bifida Narrow face Renal hypoplasia Oligohydramnios Long face Stage 5 chronic kidney disease Hepatomegaly Intellectual disability, mild Abnormal glucose tolerance Attention deficit hyperactivity disorder Choanal atresia Dandy-Walker malformation Microcornea Hypopigmentation of the skin Retinal detachment Polymicrogyria Falls Congenital cataract Coloboma Exotropia Muscular hypotonia of the trunk Rigidity Hypothyroidism Reduced visual acuity Gait ataxia Glaucoma Hyperactivity Diabetes mellitus Microphthalmia Amblyopia Type I diabetes mellitus Tremor Limb hypertonia Ocular pain Decreased light- and dark-adapted electroretinogram amplitude Peters anomaly Hyposmia Ectopia pupillae Action tremor Hypoplasia of the fovea Hand tremor Hypoplasia of the iris Aniridia Opacification of the corneal stroma Hypopituitarism Adrenal insufficiency Albinism Anophthalmia Nephroblastoma Ectopia lentis Bilateral ptosis Anosmia Optic nerve hypoplasia Kyphosis Cataract Splenomegaly Asthma Skin ulcer Abnormality of retinal pigmentation Abnormal lung morphology Thin skin Inflammatory abnormality of the skin Cutaneous photosensitivity Low posterior hairline Hepatitis Dehydration Palmoplantar keratoderma Bilateral single transverse palmar creases Hirsutism Dry skin Pruritus Papule Skin rash Erythema Elevated hepatic transaminase Hyperkeratosis Obesity Low anterior hairline Generalized hirsutism Neoplasm Hypoplasia of the zygomatic bone Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear White forelock Concave nasal ridge Chronic lung disease Prolonged neonatal jaundice Abnormality of the fingernails Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Elevated erythrocyte sedimentation rate Petechiae Increased antibody level in blood Psoriasiform dermatitis Systemic lupus erythematosus Reduced bone mineral density Absent penis



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