Brachydactyly, and Nephropathy

Diseases related with Brachydactyly and Nephropathy

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


Top matches:

Medium match JEUNE SYNDROME


Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.

JEUNE SYNDROME Is also known as asphyxiating thoracic dystrophy of the newborn|jatd|jeune asphyxiating thoracic dystrophy

Related symptoms:

  • Short stature
  • Brachydactyly
  • Respiratory insufficiency
  • Renal insufficiency
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about JEUNE SYNDROME

Medium match CRANIOECTODERMAL DYSPLASIA 4; CED4


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

Medium match CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

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Other less relevant matches:

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 WOLCOTT-RALLISON SYNDROME


Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

Medium match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match VESICOURETERAL REFLUX 2; VUR2


Related symptoms:

  • Nephropathy
  • Vesicoureteral reflux
  • Renal hypoplasia


SOURCES: OMIM MESH MENDELIAN

More info about VESICOURETERAL REFLUX 2; VUR2

Low match IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3; IGAN3


Related symptoms:

  • Hypertension
  • Proteinuria
  • Stage 5 chronic kidney disease
  • Hematuria
  • Nephropathy


SOURCES: OMIM MENDELIAN

More info about IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3; IGAN3

Low match HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY


Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.

HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY Is also known as hprt deficiency, grade i|hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial|hypoxanthine guanine phosphoribosyltransferase deficiency, grade i|hprt-related hyperuricemia|hprt1 partial deficiency|gout, hprt-related|hprt1 deficiency, parti

Related symptoms:

  • Fever
  • Renal insufficiency
  • Arthritis
  • Nephropathy
  • Nephrolithiasis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY

Top 5 symptoms//phenotypes associated to Brachydactyly and Nephropathy

Symptoms // Phenotype % cases
Renal insufficiency Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Stage 5 chronic kidney disease Uncommon - Between 30% and 50% cases
Short thorax Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Nephropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Hepatic fibrosis Microcephaly Growth delay Seizures Abnormality of the dentition Frontal bossing High forehead Epicanthus Full cheeks Cutis laxa Elevated serum creatinine Hyperuricemia Nystagmus High palate Obesity Wide nasal bridge Motor delay Hepatic failure Short distal phalanx of finger Retinal dystrophy Microdontia Ataxia Hypertelorism Cataract Upslanted palpebral fissure Hypothyroidism Abnormality of the kidney Pain Clinodactyly Intellectual disability Nephronophthisis Respiratory insufficiency Pneumonia Rod-cone dystrophy Generalized hypotonia Craniosynostosis Hypertension Hypermetropia Abnormality of the metaphysis Narrow chest

Rare Symptoms - Less than 30% cases


Oral cleft Cleft lip Otitis media Cone-shaped epiphyses of the phalanges of the hand Conductive hearing impairment Scarring Sleep disturbance Retinal degeneration Abnormal retinal morphology Delayed eruption of teeth Macroglossia Recurrent urinary tract infections Acute kidney injury Dry skin Thin vermilion border Polydactyly Cognitive impairment Hypercholesterolemia Increased body weight Sinusitis Abnormality of retinal pigmentation Micrognathia Hypertriglyceridemia Anemia Deeply set eye Visual impairment Depressed nasal bridge Short neck Hypoplasia of the corpus callosum Depressivity Posteriorly rotated ears Prominent forehead Hyporeflexia Pes planus Hyperglycemia Sensorineural hearing impairment Strabismus Failure to thrive Scoliosis Hearing impairment Hepatitis Chronic hepatic failure Hyperlordosis Glycosuria Skeletal dysplasia Insulin-resistant diabetes mellitus Overweight Ketoacidosis Acute hepatic failure Irritability Elevated hepatic transaminase Gastroesophageal reflux Abnormal heart morphology Pyelonephritis Constipation Vesicoureteral reflux Intrauterine growth retardation Kyphosis Abnormality of the liver Behavioral abnormality Feeding difficulties Diabetes mellitus Brachycephaly Weight loss Peripheral neuropathy Delayed speech and language development Jaundice Hepatosplenomegaly Flattened epiphysis Visual loss Short ribs Congestive heart failure Proteinuria Single transverse palmar crease Hernia Abnormality of cardiovascular system morphology Widely spaced teeth Chronic kidney disease Protruding ear Cone-shaped epiphysis Sagittal craniosynostosis Anteverted nares Myopia Short toe Abnormal renal morphology Hypoplasia of dental enamel Omphalocele Pectus excavatum Cone/cone-rod dystrophy Clinodactyly of the 5th finger Sparse hair Postnatal growth retardation Smooth philtrum Photophobia Asthma Tubulointerstitial nephritis Ectodermal dysplasia Osteoporosis Abnormality of the skeletal system Scaphocephaly Limb undergrowth Respiratory failure Recurrent pneumonia Tachypnea Polycystic ovaries Hyperlipidemia Hypogonadism Myoclonus Hyperhidrosis Abdominal pain Goiter Recurrent respiratory infections Pancreatitis Abdominal distention Alopecia Obsessive-compulsive behavior Emphysema Polyuria Glucose intolerance Diabetes insipidus Dystonia Hyperostosis Acne Splenomegaly Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Chronic otitis media Abnormality of the hand Nephritis Polydipsia Portal hypertension Lipodystrophy Hyperinsulinemia Precocious puberty Dilatation Encephalopathy Patent ductus arteriosus Acanthosis nigricans Elevated alkaline phosphatase Cholelithiasis Atherosclerosis Hypogonadotrophic hypogonadism Hyperkeratosis Optic disc pallor Dilated cardiomyopathy Cardiomegaly Generalized tonic-clonic seizures Hydroureter Hypotrichosis Ophthalmoplegia Pulmonic stenosis Carious teeth Delayed puberty Infertility Lymphadenopathy Nausea Cirrhosis Cough Pigmentary retinopathy Tachycardia Cyanosis Specific learning disability Hirsutism Progressive visual loss Decreased testicular size Growth hormone deficiency Hepatic steatosis Gastrointestinal hemorrhage Ascites Round face Type II diabetes mellitus Nyctalopia Macular degeneration Respiratory tract infection Accelerated skeletal maturation Absence seizures Nephrocalcinosis Urinary incontinence Generalized hirsutism Autism Dyspnea Horizontal nystagmus Kyphoscoliosis Myalgia Hypergonadotropic hypogonadism Gynecomastia Hyperpigmentation of the skin Epidermal acanthosis Decreased liver function Insulin resistance Pallor Anorexia Chronic diarrhea Thickened skin Left ventricular hypertrophy Autistic behavior Involuntary movements Recurrent otitis media Retinopathy Pulmonary arterial hypertension Pulmonary fibrosis Recurrent bronchitis Urinary urgency Lumbar scoliosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Abnormality of the urethra Facial hirsutism Chronic infection Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Fever Melena Arthritis Nephrolithiasis Hematemesis Frontal balding Gout Increased total bilirubin Hepatic necrosis ST segment depression Bull's eye maculopathy Glue ear Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Renal hypoplasia Hematuria Microscopic hematuria IgA deposition in the glomerulus Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Unilateral breast hypoplasia Multifocal atrial tachycardia Dilatation of the bladder Thickened ears Granular macular appearance Mesangial hypercellularity Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Vertical nystagmus Multinodular goiter Truncal obesity Hypoventilation Abnormality of the femoral head Right ventricular hypertrophy Attenuation of retinal blood vessels Pendular nystagmus Gingivitis Broad foot Posterior subcapsular cataract Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Severe sensorineural hearing impairment Excessive purine production Autoimmune thrombocytopenia Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Bronchitis Glomerulopathy Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Polyphagia Chorioretinal atrophy Pericardial effusion Tubular atrophy Myocarditis Abnormality of female external genitalia Disinhibition Hepatic encephalopathy Urethral stenosis Achromatopsia Acute pancreatitis Chills Poor fine motor coordination Urinary retention Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Retinal pigment epithelial atrophy Oligospermia Endocardial fibroelastosis Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Blindness Esophageal varix Hyperuricosuria Chronic obstructive pulmonary disease Chronic fatigue Myocardial fibrosis Male hypogonadism Vomiting Intellectual disability, moderate Cardiomyopathy Short phalanx of finger Hypoplasia of the capital femoral epiphysis Pancreatic cysts Congenital hepatic fibrosis Cholangitis Thoracic dysplasia Recurrent lower respiratory tract infections Prominent metopic ridge Short femoral neck Trigonocephaly Wide anterior fontanel Exotropia Renal dysplasia Frontal upsweep of hair Cholestasis Sparse scalp hair Narrow forehead Bifid uvula Renal cyst Postaxial polydactyly Abnormality of skin pigmentation Wide mouth Low-set, posteriorly rotated ears Umbilical hernia Abnormal facial shape Malformation of the hepatic ductal plate Accessory oral frenulum Aplasia of the middle phalanx of the hand Incisional hernia Platyspondyly Wormian bones Type I diabetes mellitus Coxa valga Abnormality of epiphysis morphology Blue sclerae Dehydration Triangular face Recurrent fractures Coma Neutropenia Genu valgum Hip dislocation Short proximal phalanx of finger Joint stiffness Hypoglycemia Osteopenia Acidosis Severe short stature Delayed skeletal maturation Hypertonia Diarrhea Gait disturbance Spasticity Muscular hypotonia Absence of renal corticomedullary differentiation Broad distal phalanges of all fingers Renal magnesium wasting Preauricular pit Bone marrow hypocellularity Everted lower lip vermilion High, narrow palate Joint hyperflexibility Dolichocephaly Finger syndactyly Joint laxity Telecanthus Broad phalanx of the toes Pes valgus Broad distal phalanx of finger Cutaneous finger syndactyly Hip dysplasia Hypotelorism Joint hypermobility Abnormality of the clavicle Aplasia/Hypoplasia of the lungs Postaxial foot polydactyly Abnormality of the sternum Abnormality of pelvic girdle bone morphology Abnormality of the ribs Postaxial hand polydactyly Short foot Micromelia Toe syndactyly Feeding difficulties in infancy Hypodontia Fine hair Broad toe Protuberant abdomen Tubulointerstitial abnormality Short nail Interstitial pneumonitis Thin nail Abnormality of the abdominal wall Abnormal diaphysis morphology Hepatic cysts Slow-growing hair Abnormal toenail morphology Anodontia Taurodontia Fibular hypoplasia Rhizomelia Short humerus High hypermetropia Prominent occiput Thoracic hypoplasia Abnormality of dental morphology Cupped ear Radial deviation of finger Redundant skin Bicuspid aortic valve Abnormality of the fingernails Abnormality of dental enamel Hypocalcemia Epiphyseal dysplasia Spondyloepiphyseal dysplasia Respiratory distress Abnormality of the urinary system Drowsiness Protruding tongue Impaired pain sensation Broad palm Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Open bite Impulsivity Self-injurious behavior Poor suck Sacral dimple Chronic constipation Drooling Abnormality of the outer ear Lissencephaly Hoarse voice Abnormal vertebral morphology Stereotypy Heterotopia Pachygyria Broad-based gait Decreased fetal movement Abnormality of the cardiovascular system Esotropia Self-mutilation Short attention span Retinal detachment Premature atrial contractions Fatigue Optic atrophy Sleep-wake inversion Frequent temper tantrums Head-banging Abnormality of the forearm Midline brain calcifications Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Hyperacusis Bruxism Mood changes Recurrent aspiration pneumonia Excessive daytime sleepiness Velopharyngeal insufficiency Everted upper lip vermilion Recurrent ear infections Cavum septum pellucidum Deep palmar crease Abnormality of the larynx Broad face Thick upper lip vermilion Duodenal atresia Microcornea Small hand Abnormality of neuronal migration Narrow iliac wings Abnormality of pancreas morphology Reduced pancreatic beta cells Irregular carpal bones Bilateral coxa valga Transient neonatal diabetes mellitus Shortening of all middle phalanges of the fingers Atlantoaxial dislocation Decreased hip abduction Hip subluxation Pancreatic hypoplasia Central hypothyroidism Thoracolumbar kyphosis Intracerebral periventricular calcifications Carpal bone hypoplasia Enlarged thorax Small epiphyses Thin bony cortex Multiple epiphyseal dysplasia Barrel-shaped chest Renal tubular dysfunction Irregular vertebral endplates Exocrine pancreatic insufficiency Hypoplasia of the odontoid process Steatorrhea Neurodevelopmental delay Ivory epiphyses of the phalanges of the hand Irregular tarsal ossification Short palm Cerebral cortical atrophy Falls Paresthesia Synophrys Lethargy Microtia Paralysis Aggressive behavior Anxiety EEG abnormality Polyhydramnios Mandibular prognathia Hyperactivity Ivory epiphyses of the toes Pes cavus Inguinal hernia Areflexia Abnormality of metabolism/homeostasis Midface retrusion Malar flattening Short nose Edema Ventriculomegaly Low-set ears Cryptorchidism Cleft palate Podagra



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