Brachydactyly, and Recurrent urinary tract infections

Diseases related with Brachydactyly and Recurrent urinary tract infections

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


Top matches:

Medium match HAND-FOOT-GENITAL SYNDROME


Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.

HAND-FOOT-GENITAL SYNDROME Is also known as hfgs|hand-foot-uterus syndrome|hfu

Related symptoms:

  • Strabismus
  • Brachydactyly
  • Ventricular septal defect
  • Renal insufficiency
  • Hypospadias


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HAND-FOOT-GENITAL SYNDROME

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium 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

Medium match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Medium match TRICHORHINOPHALANGEAL SYNDROME TYPE 2


Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2

Medium match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Medium match GENITOPATELLAR SYNDROME


Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

GENITOPATELLAR SYNDROME Is also known as absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GENITOPATELLAR SYNDROME

Medium match OCCIPITAL HORN SYNDROME


Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

OCCIPITAL HORN SYNDROME Is also known as eds ix, formerly|eds ix|ehlers-danlos syndrome type ix|ehlers-danlos syndrome type 9|x-linked cutis laxa|ehlers-danlos syndrome, occipital horn type, formerly|eds9, formerly|cutis laxa, x-linked, formerly

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OCCIPITAL HORN SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Talipes equinovarus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Gastroesophageal reflux

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Hydronephrosis Midface retrusion Cryptorchidism Macroglossia Abnormality of the skeletal system Muscular hypotonia Growth delay Micrognathia Anemia Low-set ears Delayed speech and language development Epicanthus Frontal bossing Micropenis Umbilical hernia Malar flattening Wide nasal bridge Skeletal dysplasia Long philtrum Hypospadias Scarring Short neck Delayed eruption of teeth Short palm Upslanted palpebral fissure Oral cleft Intellectual disability, severe Hernia Constipation Depressivity Posteriorly rotated ears Flat face Abnormality of the kidney Short nose Dysphagia Cone-shaped epiphysis Hearing impairment Rhizomelia Ventriculomegaly Talipes Cleft palate Pain Joint hyperflexibility Feeding difficulties Pneumonia Downslanted palpebral fissures Macrocephaly High palate Clinodactyly Sensorineural hearing impairment Vesicoureteral reflux Sparse scalp hair Ventricular septal defect Renal insufficiency Anteverted nares

Rare Symptoms - Less than 30% cases


Downturned corners of mouth Deeply set eye Abnormality of the dentition Dental crowding Conductive hearing impairment Acute kidney injury Narrow chest Cleft lip Apnea Hyperlordosis Kyphoscoliosis Vomiting Delayed puberty Macrotia Polyhydramnios Cognitive impairment Proptosis Short phalanx of finger Weight loss Abdominal pain Genu valgum Severe short stature Strabismus Otitis media High forehead Aplasia of the middle phalanx of the hand Cholestasis Hypoplastic labia majora Narrow forehead Communicating hydrocephalus Short humerus Polydactyly Tibial bowing Spondyloepiphyseal dysplasia Clitoral hypoplasia Cutis laxa Disproportionate short-limb short stature Wide nose Drooling Joint dislocation Wide anterior fontanel Joint laxity Aspiration Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Abnormality of the outer ear Lumbar hyperlordosis Limb undergrowth Dental malocclusion Joint hypermobility Short distal phalanx of finger Limited elbow extension Coxa valga Prominent forehead Tented upper lip vermilion Abnormality of the face Aganglionic megacolon Delayed skeletal maturation Thick lower lip vermilion Inguinal hernia Ambiguous genitalia Triangular mouth Everted lower lip vermilion Pectus excavatum Volvulus Avascular necrosis of the capital femoral epiphysis Joint stiffness Dilatation Telecanthus Short femoral neck Autism Cone-shaped epiphyses of the phalanges of the hand Agenesis of corpus callosum Hydrocephalus Redundant skin Exostoses Male pseudohermaphroditism Increased number of teeth Osteoporosis Radial deviation of finger Hemivertebrae Ectodermal dysplasia Hyperreflexia Infantile muscular hypotonia Generalized joint laxity Pyelonephritis Hip dysplasia Spasticity Abnormal hemoglobin Exotropia Spinal cord compression Thin upper lip vermilion U-Shaped upper lip vermilion Clinodactyly of the 5th finger Hip contracture Wide mouth Shawl scrotum Microtia Abnormal retinal morphology Syndactyly Prominent metopic ridge Cholangitis Hepatic fibrosis Short ribs Lumbar kyphosis in infancy Thoracic dysplasia Myelitis Recurrent lower respiratory tract infections Widely spaced teeth Trigonocephaly Short thorax Scaphocephaly Nephronophthisis Congenital hepatic fibrosis Preaxial polydactyly Renal dysplasia Aplasia/Hypoplasia of the mandible Nevus Scapular exostoses Growth hormone deficiency Bone pain Rib exostoses Gynecomastia Bilateral single transverse palmar creases Scapular winging Persistent cloaca Mild postnatal growth retardation Absent toe Bulbous nose Hydrometrocolpos Prune belly Multiple exostoses Thick nasal alae Abnormal palate morphology Vaginal atresia Oligospermia Fragile nails Recurrent upper respiratory tract infections Deep philtrum Thick eyebrow Multiple long-bone exostoses Microdontia Protruding ear Bifid uvula Renal cyst Nephropathy Retinal dystrophy Postaxial polydactyly Abnormality of skin pigmentation Retinal degeneration Stage 5 chronic kidney disease Smooth philtrum Craniosynostosis Rod-cone dystrophy Redundant skin in infancy Hypoplasia of the corpus callosum Sparse hair Respiratory insufficiency Hepatomegaly Stroke Finger syndactyly Visual impairment Cataract Nystagmus Ataxia Visual loss Colpocephaly Pancreatic cysts Poor suck Down-sloping shoulders Atypical scarring of skin Abnormality of the skull Hiatus hernia Carpal synostosis Soft skin Short clavicles Dislocated radial head Osteomalacia Orthostatic hypotension Delayed cranial suture closure Rickets Bilateral ptosis Hyperextensible skin Hypothermia Coarse hair Osteolysis Coxa vara Wormian bones Narrow face Chronic diarrhea Large fontanelles Blue sclerae Hepatitis Cerebral calcification Specific learning disability Convex nasal ridge High, narrow palate Esophagitis Premature skin wrinkling Long face Broad clavicles Carotid artery tortuosity Aortic rupture Abnormality of esophagus physiology Ureteral obstruction Persistent open anterior fontanelle Limited knee extension Bladder carcinoma Pelvic bone exostoses Rudimentary to absent tibiae Aplasia/hypoplasia of the humerus Capitate-hamate fusion Abnormality of the pubic bone Large iliac wings Long neck Abnormality of the wrist Synostosis of joints Absent tibia Abnormality of the sense of smell Keloids Gastroparesis Aplastic clavicle Thick hair Femoral hernia Venous insufficiency Bladder diverticulum Abnormality of fibula morphology Prominent superficial veins Broad ribs Bruising susceptibility Platyspondyly Hypoplasia of the capital femoral epiphysis Full cheeks Bilateral talipes equinovarus Clitoral hypertrophy Radioulnar synostosis Laryngomalacia Abnormality of the genitourinary system Scrotal hypoplasia Intellectual disability, progressive Multicystic kidney dysplasia Knee flexion contracture Congenital hip dislocation Heterotopia Fine hair Prominent nose Pulmonary hypoplasia Anteriorly placed anus Arthrogryposis multiplex congenita Severe global developmental delay Prominent nasal bridge Coarse facial features Hypothyroidism Abnormal heart morphology Patent ductus arteriosus Edema Atrial septal defect Absence of renal corticomedullary differentiation Short proximal phalanx of finger Frontal upsweep of hair Accessory oral frenulum Ectopic kidney Patellar dislocation Dolichocephaly Enlarged labia minora Hip dislocation Pectus carinatum Abnormality of the pinna Jaundice Pes planus Osteopenia Kyphosis Intellectual disability, mild Diarrhea Skeletal muscle atrophy Ptosis Hypoplastic inferior pubic rami Scrotal hypospadias Absent scrotum Short columella Small scrotum Tongue thrusting Abnormal bone structure Periventricular gray matter heterotopia Talipes calcaneovalgus Hypoplastic ischia Calcaneovalgus deformity Primary hypothyroidism Patellar hypoplasia Trident hand Labial hypoplasia Patellar aplasia Hypoplastic ilia Beaking of vertebral bodies Spinal stenosis with reduced interpedicular distance Motor delay Limited hip extension Premature birth Elbow dislocation Short metatarsal Hyperkinesis Absence seizures Recurrent pneumonia Muscle stiffness Meningitis Sinusitis Encephalocele Short metacarpal Generalized myoclonic seizures Clubbing Abdominal distention Inability to walk Nausea Poor speech Generalized tonic-clonic seizures Autistic behavior Respiratory tract infection Anxiety Mandibular prognathia Respiratory failure Brachycephaly Oral-pharyngeal dysphagia Flat occiput Recurrent infections Aplasia/Hypoplasia of the ulna Irritability Intellectual disability, moderate Abnormality of metabolism/homeostasis Cerebral atrophy Hypertonia Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Long clavicles Progressive spasticity Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Bell-shaped thorax Loss of speech Atonic seizures Recurrent respiratory infections Respiratory distress Thick vermilion border Synostosis of carpal bones Abnormality of the urethra Uterus didelphys Small thenar eminence Chordee Ureteropelvic junction obstruction Delayed ossification of carpal bones Bicornuate uterus Abnormality of the uterus Short 1st metacarpal Short hallux Short 5th finger Bifid scrotum Hallux varus Proximal placement of thumb Abnormality of the hand Abnormality of the urinary system Sacral dimple Abnormal dermatoglyphics Finger clinodactyly Spontaneous abortion Short thumb Postaxial hand polydactyly Urinary incontinence Short foot Pseudoepiphyses Shortening of all middle phalanges of the fingers Gait disturbance Spastic paraplegia Failure to thrive Abnormality of the male genitalia Abnormality of fontanelles Profound global developmental delay Dysphasia Self-injurious behavior Encephalitis Depressed nasal ridge Hypoplasia of penis Abnormality of movement Nausea and vomiting Feeding difficulties in infancy Ulnar deviation of the 2nd finger Cerebral cortical atrophy Behavioral abnormality Blindness Optic atrophy Myopia Longitudinal vaginal septum Delayed tarsal ossification Hypoplastic fifth toenail Penile hypospadias Short 2nd toe Short first metatarsal Postnatal growth retardation Tapered finger Brain stem compression Acanthosis nigricans Bowel incontinence Flared metaphysis Chronic otitis media Epiphyseal dysplasia Back pain Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Short long bone Sleep apnea Paraparesis Disproportionate short stature Clonus Short toe Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Recurrent otitis media Osteoarthritis Tetraparesis Epidermal acanthosis Overgrowth Lymphoma Myeloid leukemia Neuroblastoma Confusion Recurrent ear infections Childhood onset short-limb short stature Small foramen magnum Iritis Cervical cord compression Hypopnea Obstructive lung disease Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Chronic myelogenous leukemia Thoracolumbar kyphosis Myelopathy Spinal canal stenosis Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Abnormality of femur morphology Central apnea Dysuria Upper airway obstruction Osteopetrosis Megalencephaly Obstructive sleep apnea Abnormality of the elbow Sleep disturbance Micromelia Renal agenesis Widely-spaced maxillary central incisors Long eyelashes Broad thumb Nail dysplasia Hypodontia Small hand Retrognathia Hypogonadism Hypoganglionosis Hemoglobin H Endometriosis Reduced alpha/beta synthesis ratio Absent frontal sinuses Abnormal vertebral morphology Ileus Perimembranous ventricular septal defect Hypochromic microcytic anemia Decreased serum testosterone level Chronic constipation Facial hypotonia Protruding tongue Microcytic anemia Hydroureter Spastic diplegia Abnormality of the genital system Gingival overgrowth Hypergonadotropic hypogonadism Leukemia Broad toe Abnormality of the nervous system Rigidity Arthralgia Obesity Hypertension Neoplasm Absent penis Right ventricular outlet obstruction Bifid distal phalanx of toe Short hard palate Duplication of the distal phalanx of hand Renal duplication Narrow palate Short middle phalanx of the 5th finger Elevated circulating follicle stimulating hormone level Bifid tongue Misalignment of teeth Capillary hemangioma Nevus flammeus Hypoplastic nipples Long palpebral fissure Mesomelia Hemangioma Short chin Humerus varus



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