Cleft palate, and Proteinuria

Diseases related with Cleft palate and Proteinuria

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


Top matches:

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Low match RENAL AGENESIS, BILATERAL


Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

Low match DENYS-DRASH SYNDROME; DDS


DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

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Other less relevant matches:

Low match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Low match LYMPHEDEMA-DISTICHIASIS SYNDROME


Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

LYMPHEDEMA-DISTICHIASIS SYNDROME Is also known as lymphedema with distichiasis

Related symptoms:

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-DISTICHIASIS SYNDROME

Low match CRANIOECTODERMAL DYSPLASIA 2; CED2


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

Low match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE


Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

Low match OROFACIODIGITAL SYNDROME I; OFD1


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

Low match OROFACIODIGITAL SYNDROME TYPE 1


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

Low match NAIL-PATELLA SYNDROME; NPS


NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Top 5 symptoms//phenotypes associated to Cleft palate and Proteinuria

Symptoms // Phenotype % cases
Hypertension Common - Between 50% and 80% cases
Abnormality of the kidney Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Epicanthus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Proteinuria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Low-set ears Hypertelorism Seizures Short stature Abnormality of the dentition Abnormal heart morphology Micrognathia Ptosis Renal dysplasia Multicystic kidney dysplasia High palate Polycystic kidney dysplasia Brachydactyly Pain Wide nasal bridge Stage 5 chronic kidney disease Nephrotic syndrome Telecanthus Growth delay Talipes Frontal bossing Edema Sparse hair Hematuria Talipes equinovarus Chronic kidney disease Dilatation Polydactyly Nephropathy

Rare Symptoms - Less than 30% cases


Abnormality of cardiovascular system morphology Rod-cone dystrophy Cardiomyopathy Recurrent infections Muscle weakness Sensorineural hearing impairment Postnatal growth retardation Agenesis of corpus callosum Abnormality of the skeletal system Acidosis Alopecia Uterus didelphys Syndactyly Retrognathia Pectus excavatum Clinodactyly Tremor Downslanted palpebral fissures Glomerulopathy Diabetes mellitus Intrauterine growth retardation Glomerulonephritis Tubulointerstitial nephritis Paresthesia Recurrent urinary tract infections Pancreatic cysts Deviation of finger Patent ductus arteriosus Cataract Lobulated tongue Tongue nodules Median cleft lip Milia Clinodactyly of the 5th finger Hydronephrosis Ovarian cyst Underdeveloped nasal alae Oral cleft Abnormality of the urinary system Facial asymmetry Global developmental delay Microcephaly Ectodermal dysplasia Depressed nasal bridge Cleft lip Renal cyst Cleft upper lip Elevated hepatic transaminase Neoplasm Nephronophthisis Primary amenorrhea Cryptorchidism Abnormal facial shape Widely spaced teeth Unilateral renal agenesis Bifid uvula Hepatic fibrosis Postaxial hand polydactyly Bilateral renal dysplasia Microdontia Nystagmus Vaginal atresia Focal segmental glomerulosclerosis Preaxial polydactyly Hernia Patellar hypoplasia Joint laxity Abnormality of the pancreas Blepharophimosis Neonatal asphyxia Radial deviation of finger Intellectual disability, mild Microtia Molar tooth sign on MRI Agenesis of permanent teeth Atrioventricular canal defect Increased number of teeth Multiple bladder diverticula Arachnoid cyst Microretrognathia Thin upper lip vermilion Dysarthria Myelomeningocele Hypothyroidism Narrow mouth Posteriorly rotated ears Abnormal cortical gyration Bifid tongue Microphthalmia Cutaneous syndactyly Abnormal cerebellum morphology Hypoplasia of dental enamel Abnormality of the outer ear Hypoplasia of teeth Congenital hypothyroidism Atrial septal defect Intellectual disability, severe Delayed speech and language development Epicanthus inversus Prominent occiput Depressivity Heart murmur Scrotal hypoplasia Torticollis Dilated cardiomyopathy Macular degeneration Abnormal palmar dermatoglyphics Feeding difficulties Amblyopia Abnormality of the cerebral white matter Carious teeth Recurrent otitis media Delayed myelination Bulbous nose Postaxial polydactyly Motor delay Hydrocephalus Brittle hair Dry hair Keratoconus Ridged nail Patellar aplasia Raynaud phenomenon Blue irides Abnormality of the elbow Patellar dislocation Renal cell carcinoma Colon cancer Aplasia/Hypoplasia of the patella Limited elbow extension Anonychia Nephritis Pterygium Aortic regurgitation Spina bifida Lumbar hyperlordosis Nail dysplasia Concave nail Microalbuminuria Confusion Hypoplastic radial head Lester's sign Absence of pectoralis minor muscle Elongated radius Triceps aplasia Disproportionate prominence of the femoral medial condyle Quadriceps aplasia Stellate iris Thickening of the lateral border of the scapula Iliac horns Cervical ribs Glenoid fossa hypoplasia Hypoplasia of first ribs Microphakia Deep-set nails Antecubital pterygium Absent distal interphalangeal creases Albuminuria Congenital nephrotic syndrome Microcornea Arthrogryposis multiplex congenita Porencephalic cyst Dystonia Abnormality of dental enamel Short toe Abnormality of the face Choanal atresia Dandy-Walker malformation Hypodontia Dry skin Finger syndactyly Ataxia Coarse hair Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Hypothalamic hamartoma Narrow naris Hepatic cysts Reduced bone mineral density Fused teeth Nail dystrophy Broad alveolar ridges Pes planus Glaucoma Osteoporosis Scoliosis Odontogenic neoplasm Lip pit Hamartoma of tongue Accessory oral frenulum Hypoplasia of the zygomatic bone Hand polydactyly Abnormality of the skull Exocrine pancreatic insufficiency Foot polydactyly Tarsal synostosis Open bite Preaxial hand polydactyly Cone-shaped epiphysis Chronic otitis media Generalized hypotonia High forehead Metopic synostosis Ambiguous genitalia, male True hermaphroditism Anuria Streak ovary Low-grade fever Ambiguous genitalia, female Diffuse mesangial sclerosis Abnormal renal physiology Gonadal tissue inappropriate for external genitalia or chromosomal sex Gonadoblastoma Male pseudohermaphroditism Aniridia Gonadal dysgenesis Nephroblastoma Glomerulosclerosis Abnormality of the genital system Ovarian gonadoblastoma Myalgia Ambiguous genitalia Psoriasiform dermatitis Aplasia of the uterus Tetany Severe postnatal growth retardation Hypoparathyroidism Renal tubular acidosis Basal ganglia calcification Progressive sensorineural hearing impairment Polycystic ovaries Stroke Hyperkinesis Ischemic stroke Nephrocalcinosis Hypocalcemia Horizontal nystagmus Bilateral sensorineural hearing impairment Vesicoureteral reflux Congenital diaphragmatic hernia Amenorrhea Distal renal tubular acidosis Pulmonary hypoplasia Abnormality of the genitourinary system Abnormal intestine morphology Depressed nasal ridge Renal hypoplasia Oligohydramnios Renal agenesis Falls Non-midline cleft lip Velopharyngeal insufficiency Elevated serum creatinine Gout Hyperuricemia Neutropenia Anemia Cognitive impairment Tracheoesophageal fistula Breech presentation Abdominal distention Sirenomelia Lethargy Pallor Weight loss Micropenis Respiratory insufficiency Fever Fetal polyuria Urethral obstruction Bicornuate uterus Potter facies Urogenital fistula Nonketotic hypoglycemia Bilateral renal hypoplasia Abnormal sacrum morphology Bilateral renal agenesis Abnormality of female internal genitalia Hypocalcemic seizures Proximal renal tubular acidosis Horizontal ribs Everted lower lip vermilion Rhizomelia Left ventricular hypertrophy Cholestasis Narrow forehead Limb undergrowth Full cheeks Smooth philtrum Short ribs Narrow chest Dolichocephaly Craniosynostosis Abnormality of the pinna Polyhydramnios Upslanted palpebral fissure Inguinal hernia Hydrops fetalis Hyperbilirubinemia Splenomegaly Polysplenia Portal fibrosis Bile duct proliferation Cloverleaf skull Broad philtrum Cholangitis Biliary cirrhosis High anterior hairline Cutaneous finger syndactyly Narrow palpebral fissure Cystic hygroma Mesomelia Sparse eyebrow Patent foramen ovale Cutis laxa Plagiocephaly Sparse eyelashes Midface retrusion Short neck Pseudopapilledema Hypogonadism Webbed neck Growth hormone deficiency Bruising susceptibility Abnormality of the liver Anxiety Photophobia Arrhythmia Lymphedema Obesity Unilateral renal dysplasia Parathyroid hypoplasia Abnormality of T cell physiology Unilateral deafness Thickening of the glomerular basement membrane Septate vagina Telangiectasia Gynecomastia Anteverted nares Renal duplication Hepatomegaly Lipedema Spinalarachnoid cyst Abnormality of the pulmonary vasculature Predominantly lower limb lymphedema Fibrosarcoma Knee pain Distichiasis Conjunctivitis Venous insufficiency Varicose veins Corneal erosion Overweight Cellulitis Ectropion Recurrent skin infections Biceps aplasia



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