Frontal bossing, and Nephropathy

Diseases related with Frontal bossing and Nephropathy

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


Top matches:

High 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

High match MILLER-DIEKER SYNDROME


Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

High match JOUBERT SYNDROME WITH HEPATIC DEFECT


Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

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Other less relevant matches:

High 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

High 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

High 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

Medium match ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

Medium match ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME


Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME Is also known as arc syndrome|arcs

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME

Medium match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Medium match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Top 5 symptoms//phenotypes associated to Frontal bossing and Nephropathy

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Renal insufficiency Failure to thrive Intellectual disability High forehead Growth delay Ataxia Inguinal hernia Abnormality of cardiovascular system morphology Anteverted nares Hypoplasia of the corpus callosum Micrognathia Nystagmus Cataract Wide nasal bridge Hypertelorism Hepatic fibrosis Epicanthus Stage 5 chronic kidney disease Single transverse palmar crease Brachydactyly Hepatomegaly Omphalocele Lissencephaly Muscular hypotonia Cholestatic liver disease Visual impairment Elevated hepatic transaminase Abnormality of the kidney Feeding difficulties in infancy Prominent occiput Wide mouth Oral cleft Metabolic acidosis Cholestasis Clinodactyly Clinodactyly of the 5th finger Posteriorly rotated ears Prominent forehead Upslanted palpebral fissure Hearing impairment Retinal dystrophy Cerebral cortical atrophy Polydactyly Polyhydramnios Delayed eruption of teeth Long face Short stature Short distal phalanx of finger Chronic kidney disease Smooth philtrum Full cheeks Craniosynostosis Hip dysplasia Macroglossia Cutis laxa Nephronophthisis Abnormal facial shape Cryptorchidism Cleft palate Abnormality of the dentition High palate Hypertension

Rare Symptoms - Less than 30% cases


Scaphocephaly Wide anterior fontanel Short ribs Obesity Jaundice Ventricular septal defect Abnormality of the liver Widely spaced teeth Myopia Hypoplasia of dental enamel Short thorax Macrocephaly Intellectual disability, moderate Midface retrusion Hyperactivity Prominent metopic ridge Hypothyroidism Mandibular prognathia Splenomegaly Intellectual disability, severe Hydrocephalus Tremor Congenital hepatic fibrosis Redundant skin Arthrogryposis multiplex congenita Cleft lip Hip dislocation Proteinuria Acidosis Talipes calcaneovalgus Respiratory insufficiency Giant cell hepatitis Hernia Nephrogenic diabetes insipidus Depressivity Umbilical hernia Conjugated hyperbilirubinemia Urogenital fistula Recurrent urinary tract infections Retinal degeneration Abnormality of skin pigmentation Sensorineural hearing impairment Right ventricular hypertrophy Feeding difficulties Renal tubular acidosis Nephrocalcinosis Sloping forehead Microdontia Anemia Renal cyst Ichthyosis Strabismus Midline brain calcifications Scoliosis Neoplasm Abnormality of the cardiovascular system Postnatal growth retardation EEG abnormality Brachycephaly Agenesis of corpus callosum Abnormal heart morphology Abnormality of metabolism/homeostasis Short nose Atrial septal defect Downslanted palpebral fissures Intrauterine growth retardation Ptosis Broad-based gait Decreased fetal movement Sagittal craniosynostosis Elevated serum creatinine Limb undergrowth Ectodermal dysplasia Thin vermilion border Joint hypermobility Narrow chest Protruding ear Rod-cone dystrophy Pneumonia Pectus excavatum Abnormality of the skeletal system Narrow forehead Motor delay Pachygyria Abnormality of neuronal migration Abnormality of upper lip Pelvic kidney Recurrent aspiration pneumonia Cavum septum pellucidum Deep palmar crease Heterotopia Thick upper lip vermilion Duodenal atresia Progressive spastic paraplegia Lethargy Congestive heart failure Sacral dimple Paresthesia Everted upper lip vermilion Abnormality of the larynx Neurological speech impairment Hypertrophic cardiomyopathy Hypoglycemia Impulsivity Coarse facial features Head-banging Premature atrial contractions Proptosis Hyperacusis Autism Open bite Mood changes Abnormal renal morphology Poor speech Broad face Nephrolithiasis Abnormal tracheobronchial morphology Relative macrocephaly Arnold-Chiari malformation Sleep apnea Accelerated skeletal maturation Tall stature Large fontanelles Abnormality of the forearm Cardiomegaly Congenital diaphragmatic hernia Prominent nose Premature birth Vesicoureteral reflux Hypercalciuria Generalized aminoaciduria Abnormality of the thyroid gland Lichenification Ventricular hypertrophy Self-mutilation Talipes equinovarus Hyperkeratosis Sleep-wake inversion Osteopenia Overweight Velopharyngeal insufficiency Pruritus Talipes Frequent temper tantrums Abnormal bleeding Morphological abnormality of the middle ear Dehydration Epistaxis Congenital hip dislocation Recurrent ear infections Hyperbilirubinemia Aminoaciduria Excessive daytime sleepiness Diabetes insipidus Severe failure to thrive Drowsiness Chronic constipation Protruding tongue Renal tubular dysfunction Short attention span Bruxism Impaired pain sensation Broad palm Abnormality of the immune system Barrel-shaped chest Difficulty walking Nephroblastoma Pancytopenia Apathy Ectopia lentis Hemiplegia Slurred speech Atherosclerosis Abnormality of retinal pigmentation Anorexia Pulmonary arterial hypertension Psychosis Abnormality of extrapyramidal motor function Thromboembolism Pigmentary retinopathy Memory impairment Aciduria Urinary incontinence Neutropenia Hepatic steatosis Hematuria Hemolytic anemia Unsteady gait Confusion Disproportionate tall stature Megaloblastic anemia Malabsorption Decreased methylcobalamin Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Delirium Cor pulmonale Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Lower limb muscle weakness Congenital cataract Melanocytic nevus Gonadoblastoma Anterior creases of earlobe Choroideremia Asymmetric growth Abnormality of earlobe Pseudohypoparathyroidism Otosclerosis Rhabdomyosarcoma Ureteral duplication Visceromegaly Hemihypertrophy Elevated alpha-fetoprotein Diastasis recti Multiple renal cysts Nevus flammeus Neonatal hypoglycemia Enlarged kidney Exocrine pancreatic insufficiency Polycythemia Neuroblastoma Neurodevelopmental delay Large for gestational age Hepatoblastoma Leiomyosarcoma Retinopathy Muscle weakness Mental deterioration Arthritis Poor suck Macrotia Reduced visual acuity Gait ataxia Weight loss Dementia Thrombocytopenia Subchorionic septal cyst Facial hemangioma Large intestinal polyposis Abnormality of the shape of the midface Adrenocortical cytomegaly Abnormality of pancreas morphology Congenital megaureter Large placenta Posterior helix pit Branchial cyst Infra-orbital crease Adrenocortical carcinoma Self-injurious behavior Abnormality of dental morphology Abnormality of the urinary system Abnormality of abdomen morphology Chronic hepatic failure Multiple small medullary renal cysts Aplasia/Hypoplasia of the cerebellar vermis Abnormal pattern of respiration Abnormality of the hypothalamus-pituitary axis Esophageal varix Neoplasm of the liver Optic nerve coloboma Biparietal narrowing Cognitive impairment Occipital encephalocele Molar tooth sign on MRI Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Portal hypertension Aplasia/Hypoplasia of the corpus callosum Oculomotor apraxia Multicystic kidney dysplasia Encephalocele Intrahepatic biliary atresia Depressed nasal bridge Apraxia Trigonocephaly Cholangitis Thoracic dysplasia Cone-shaped epiphyses of the phalanges of the hand Recurrent lower respiratory tract infections Acute kidney injury Abnormal retinal morphology Short femoral neck Cone-shaped epiphysis Exotropia Short neck Short phalanx of finger Renal dysplasia Sparse scalp hair Bifid uvula Postaxial polydactyly Scarring Low-set, posteriorly rotated ears Skeletal dysplasia Visual loss Cerebellar vermis hypoplasia Postaxial hand polydactyly Hypoplasia of the capital femoral epiphysis Thin upper lip vermilion Infantile muscular hypotonia Joint contracture of the hand Spastic gait Wide nose Flat face Paraplegia Spastic paraplegia Camptodactyly Dysphagia Spastic diplegia Broad phalanx of the toes Pes valgus Broad distal phalanx of finger Cutaneous finger syndactyly Cone/cone-rod dystrophy Recurrent pneumonia Bone marrow hypocellularity Asthma Hypermetropia Deep philtrum Infantile spasms Gastrointestinal hemorrhage Apnea Intestinal malrotation Round face Highly arched eyebrow Iris coloboma Cirrhosis Abnormality of eye movement Prominent nasal bridge Coloboma Abnormality of the eye Abnormality of the nervous system Premature skin wrinkling Cerebellar hypoplasia Dilatation Gait disturbance Hyperreflexia Spasticity Bitemporal hollowing Type I lissencephaly Decerebrate rigidity Agyria Pancreatic cysts Pyelonephritis Drooling Malar flattening Conductive hearing impairment Deeply set eye Pes planus Gastroesophageal reflux Pes cavus Constipation Hyporeflexia Areflexia Behavioral abnormality Aggressive behavior Edema Ventriculomegaly Peripheral neuropathy Delayed speech and language development Pain Malformation of the hepatic ductal plate Broad distal phalanges of all fingers Incisional hernia Renal magnesium wasting Anxiety Hyperlordosis Tubulointerstitial abnormality Otitis media Abnormality of the outer ear Hypercholesterolemia Increased body weight Hoarse voice Abnormal vertebral morphology Sinusitis Stereotypy Hypertriglyceridemia Esotropia Paralysis Microcornea Sleep disturbance Retinal detachment Small hand Short palm Falls Dry skin Synophrys Microtia Broad toe Short nail Accessory oral frenulum Finger syndactyly Fine hair Hypotelorism Hypodontia Everted lower lip vermilion High, narrow palate Hepatic failure Joint hyperflexibility Dolichocephaly Sparse hair Rhizomelia Joint laxity Telecanthus Photophobia Respiratory failure Osteoporosis Absence of renal corticomedullary differentiation Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Frontal upsweep of hair Abnormality of the metaphysis Short toe Interstitial pneumonitis Taurodontia Thin nail Flattened epiphysis Abnormality of the abdominal wall Abnormal diaphysis morphology Hepatic cysts Slow-growing hair Abnormal toenail morphology Anodontia Tubulointerstitial nephritis Protuberant abdomen Hypocalcemia Fibular hypoplasia Short humerus High hypermetropia Thoracic hypoplasia Cupped ear Radial deviation of finger Bicuspid aortic valve Abnormality of the fingernails Abnormality of dental enamel Thyroglossal cyst



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