Frontal bossing, and Renal insufficiency

Diseases related with Frontal bossing and Renal insufficiency

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

Top matches:

VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017).For a discussion of genetic heterogeneity of VCRL, see VCRL1 (OMIM ).

CONGENITAL VERTEBRAL-CARDIAC-RENAL ANOMALIES SYNDROME Is also known as congenital nad deficiency disorder|congenital nad deficiency disorder 2|kynureninase deficiency, complete

Related symptoms:

  • Microcephaly
  • Low-set ears
  • Delayed speech and language development
  • Frontal bossing
  • Syndactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL VERTEBRAL-CARDIAC-RENAL ANOMALIES SYNDROME

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 discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

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

Other less relevant matches:

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

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

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:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

Top 5 symptoms//phenotypes associated to Frontal bossing and Renal insufficiency

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Stage 5 chronic kidney disease Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
Nephronophthisis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hepatic fibrosis Chronic kidney disease Hypertelorism Micrognathia Craniosynostosis Intellectual disability Epicanthus Telecanthus Low-set ears Hypertension Abnormality of the dentition Sparse hair Postaxial hand polydactyly Downslanted palpebral fissures Polydactyly Abnormality of the skeletal system Cleft palate Narrow chest Proteinuria Syndactyly Elevated hepatic transaminase Global developmental delay Seizures Hearing impairment Hydrocephalus Cutis laxa Rod-cone dystrophy Rhizomelia Feeding difficulties Wide nasal bridge Limb undergrowth Ectodermal dysplasia Postaxial polydactyly Facial asymmetry Dry skin High forehead Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Malar flattening Retinopathy Blindness Dolichocephaly Renal cyst Abnormal heart morphology Ataxia Midface retrusion Cloverleaf skull Exocrine pancreatic insufficiency Dandy-Walker malformation Hypopigmentation of the skin Choanal atresia Abnormal cerebellum morphology Microcephaly Patent foramen ovale Retrognathia Splenomegaly Hepatomegaly Ovarian cyst Multicystic kidney dysplasia Tremor Dilatation Alopecia Agenesis of corpus callosum Hydronephrosis Diabetes mellitus Tongue nodules Underdeveloped nasal alae Milia Median cleft lip Metopic synostosis Accessory oral frenulum Abnormality of the pancreas Pancreatic cysts Deviation of finger Lobulated tongue Molar tooth sign on MRI Cerebral atrophy Clinodactyly Generalized hypotonia Protruding ear Macrocephaly Cutaneous finger syndactyly Everted lower lip vermilion Full cheeks Cholestasis Widely spaced teeth Joint laxity Smooth philtrum Failure to thrive Hypermetropia Sagittal craniosynostosis Pectus excavatum Visual impairment Renal hypoplasia Delayed speech and language development Patent ductus arteriosus Polycystic kidney dysplasia Atrioventricular canal defect Preeclampsia Cleft lip Abnormality of the kidney Renal Fanconi syndrome Generalized aminoaciduria Abnormality of the cerebral white matter Primary hypothyroidism Increased number of teeth Hypophosphatemic rickets Carious teeth Oral cleft Radial deviation of finger Bifid uvula Recurrent corneal erosions Decreased plasma carnitine Hypoplasia of dental enamel Agenesis of permanent teeth Male hypogonadism Microretrognathia Cutaneous syndactyly Heat intolerance Corneal crystals Retinal pigment epithelial mottling Depressivity Plagiocephaly Upslanted palpebral fissure Acidosis Polyhydramnios Oral motor hypotonia Abnormality of the pinna Blepharophimosis Microdontia Narrow forehead Left ventricular hypertrophy Hydrops fetalis Short ribs Hyperbilirubinemia Narrow palpebral fissure Sparse eyelashes Preaxial polydactyly Flushing Broad philtrum Dysarthria Fused teeth Horizontal ribs Rachitic rosary Portal fibrosis Bile duct proliferation Cholangitis Sparse eyebrow Biliary cirrhosis High anterior hairline Polysplenia Cystic hygroma Episodic metabolic acidosis Mesomelia Arachnoid cyst Generalized muscle weakness Myelomeningocele Muscle weakness Cone-shaped epiphysis Preaxial hand polydactyly Nephrolithiasis Tarsal synostosis Progressive neurologic deterioration Foot polydactyly Pigmentary retinopathy Abnormality of the skull Hypoplasia of the zygomatic bone Broad alveolar ridges Hamartoma of tongue Lip pit Odontogenic neoplasm Growth delay Cognitive impairment Hand polydactyly Photophobia Abnormality of skin pigmentation Confusion Genu valgum Cerebral calcification Delayed puberty Dehydration Hypothyroidism Fever Hypogonadism Delayed skeletal maturation Vomiting Myopathy Dysphagia Skeletal muscle atrophy Chronic otitis media Brittle hair Microscopic hematuria Narrow naris Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Male infertility Hypothalamic hamartoma Hypopigmentation of hair Glycosuria Hepatic cysts Porencephalic cyst Dry hair Memory impairment Bifid tongue Abnormal cortical gyration Trident hand Dystonia Hypohidrosis Abnormality of dental enamel Failure to thrive in infancy Coarse hair Reduced bone mineral density Polydipsia Metaphyseal widening Rickets Short toe Polyuria Abnormality of the face Hypodontia Hyponatremia Finger syndactyly Clinodactyly of the 5th finger Oral-pharyngeal dysphagia Open bite Short palm Inguinal hernia Epidermal acanthosis Increased intracranial pressure Abnormality of the metacarpal bones Arnold-Chiari malformation Abnormal palate morphology Acanthosis nigricans Abnormal form of the vertebral bodies Convex nasal ridge Glomerulonephritis Short metacarpal Dental malocclusion Migraine Nevus Hypoplasia of the maxilla Conductive hearing impairment Laryngomalacia Melanocytic nevus Brachycephaly Bicoronal synostosis Neonatal hypotonia Microphthalmia Muscular hypotonia Nystagmus Short uvula Membranous nephropathy Brachyturricephaly Aplasia/Hypoplasia of the cerebellum Abnormal sacrum morphology Craniofacial dysostosis Inflammatory abnormality of the eye Choanal stenosis Turricephaly Proportionate short stature Proptosis Posteriorly rotated ears Coloboma Fine hair Bilateral postaxial polydactyly Short nail Peripheral pulmonary artery stenosis Hypoplasia of teeth Scaphocephaly Sandal gap Cirrhosis 3-4 toe syndactyly Toe syndactyly Pulmonic stenosis Restrictive deficit on pulmonary function testing Hypoplastic left heart Hemivertebrae Talipes Broad nail Pneumonia Respiratory insufficiency Elevated serum creatinine Optic atrophy Ptosis Strabismus Broad phalanx of the toes Pes valgus Broad distal phalanx of finger Cone/cone-rod dystrophy Joint hypermobility Recurrent pneumonia Bone marrow hypocellularity Hip dysplasia Asthma Nephropathy Short distal phalanx of finger Thin vermilion border Camptodactyly Abnormality of the foot Hernia Horizontal nystagmus Long fingers Unilateral renal agenesis Language impairment Focal impaired awareness seizure Schizophrenia Renal hypoplasia/aplasia Sparse and thin eyebrow Upper limb undergrowth Large fontanelles Recurrent urinary tract infections Hypertrichosis Small nail Bilateral sensorineural hearing impairment Oligohydramnios Shawl scrotum Maturity-onset diabetes of the young Short foot Aplasia of the vagina Short neck Anteverted nares Unicornuate uterus Pancreatic aplasia Pica Ureteral atresia Hypoplasia of the bladder Aplasia of the uterus Abnormality of upper lip Ureterocele Hyperconvex nail Subcortical cerebral atrophy Urethral stenosis Hyperechogenic kidneys Long toe Highly arched eyebrow Nail dystrophy Retinal dystrophy Hypoplasia of the brainstem Central apnea Optic nerve coloboma Impaired smooth pursuit Congenital blindness Acute kidney injury External genital hypoplasia Chorioretinal coloboma Abnormal renal physiology Abnormal electroretinogram Oculomotor apraxia Renal dysplasia Encephalocele Apraxia Esotropia Agenesis of cerebellar vermis Abnormal corpus callosum morphology Mandibular prognathia Thickened superior cerebellar peduncle Autism Behavioral abnormality Cryptorchidism Scoliosis Noncommunicating hydrocephalus Enlarged fossa interpeduncularis Neonatal breathing dysregulation Rotary nystagmus Brainstem dysplasia Dysgenesis of the cerebellar vermis Episodic tachypnea Elongated superior cerebellar peduncle Hypoplastic male external genitalia Abnormality of ocular smooth pursuit Abnormal saccadic eye movements Elevated intracellular cystine


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