Cleft palate, and Nephrotic syndrome

Diseases related with Cleft palate and Nephrotic syndrome

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


Top matches:

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

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 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

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Other less relevant matches:

Low match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE


Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Is also known as mceds|arthrogryposis, distal, with peculiar facies and hydronephrosis|adducted thumb-clubfoot syndrome|ehlers-danlos syndrome, type vib, formerly|atcs|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|eds6b, formerly|dundar syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE

Low match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Low match MUCKLE-WELLS SYNDROME


Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Low match INFANTILE SIALIC ACID STORAGE DISEASE; ISSD


Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

Low match GALLOWAY-MOWAT SYNDROME 3; GAMOS3


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA


Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Low match GALLOWAY-MOWAT SYNDROME


Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Nephrotic syndrome

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Edema

Uncommon Symptoms - Between 30% and 50% cases


High palate

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Proteinuria Abnormality of the kidney Global developmental delay Focal segmental glomerulosclerosis Glomerulosclerosis Growth delay Micrognathia Hypertelorism Cerebral atrophy Cerebellar atrophy Abnormal facial shape Nephropathy Renal insufficiency Arachnodactyly Ptosis Hernia Hematuria Strabismus Spasticity Narrow mouth Muscle weakness Ventriculomegaly Visual impairment Abnormality of the skeletal system Microcephaly Flexion contracture Muscular hypotonia Pain Delayed speech and language development Narrow forehead Intrauterine growth retardation Talipes Pectus excavatum Diffuse mesangial sclerosis Talipes equinovarus Cataract Stage 5 chronic kidney disease Scoliosis Epicanthus Hypertension Neoplasm Cerebellar hypoplasia Glaucoma

Rare Symptoms - Less than 30% cases


Inguinal hernia Osteopenia Retrognathia Scarring Short nose Cryptorchidism Downslanted palpebral fissures Microcornea Recurrent urinary tract infections Pterygium Narrow nasal ridge Congenital nephrotic syndrome Albuminuria Ataxia Thin skin Coarctation of aorta Hypoplasia of the corpus callosum Large fontanelles Ichthyosis Optic atrophy Splenomegaly Pes cavus Aspiration Camptodactyly of finger Delayed puberty Premature birth Anemia Ascites Hypopigmentation of the skin Abnormality of the foot Severe global developmental delay Dilatation Hydrocephalus Anteverted nares Hepatomegaly Feeding difficulties Abnormality of the dentition Pachygyria Adducted thumb Hand clenching Hypoalbuminemia Delayed cranial suture closure Lissencephaly Postnatal microcephaly Oligohydramnios Low-set ears Sloping forehead Convex nasal ridge Hiatus hernia Camptodactyly Midface retrusion Microphthalmia Nail dystrophy Arthrogryposis multiplex congenita Failure to thrive Sensorineural hearing impairment Hypocalcemia Diabetes mellitus Uterus didelphys Myalgia Abnormal renal physiology Hydronephrosis Renal dysplasia Progressive sensorineural hearing impairment Abnormality of the genital system Glomerulonephritis Fever Abnormality of the urinary system Osteoporosis Chronic kidney disease Hyperkinesis Sparse hair Hypsarrhythmia Small nail Heterotopia Postnatal growth retardation Progressive microcephaly Spastic tetraplegia Hip dislocation Coloboma Deeply set eye Joint contracture of the hand Opacification of the corneal stroma Severe muscular hypotonia Leukodystrophy Paralysis Proximal muscle weakness Dandy-Walker malformation Rigidity Proptosis Hyperkeratosis Alopecia Hypospadias Prominent nose Myopathy Hypotelorism Hypertensive crisis Delayed myelination Fetal ascites Corpus callosum atrophy Cortical gyral simplification Joint stiffness Hypoplastic left heart Vomiting Visceromegaly Hypoplasia of the brainstem Abnormality of the intervertebral disk Gingival overgrowth Diffuse cerebral atrophy Cardiomegaly Aqueductal stenosis Spastic ataxia Periorbital edema Diaphragmatic eventration Axial dystonia Encephalomalacia Abnormality of the thorax Corneal opacity Respiratory tract infection Hepatosplenomegaly Coarse facial features Hypoplasia of the ear cartilage Congestive heart failure Laryngospasm Thyroid dysgenesis Hydrops fetalis Tubular atrophy J-shaped sella turcica Proportionate short stature Vacuolated lymphocytes Hypotrichosis Flat occiput Hemiplegia/hemiparesis Abnormality of neuronal migration Slender finger Congenital hypothyroidism Abnormality of immune system physiology Hypoplasia of the iris Metaphyseal irregularity Conjugated hyperbilirubinemia Dysostosis multiplex Fair hair Adrenal hypoplasia Esophageal atresia Aspiration pneumonia Mild microcephaly Esophagitis Muscular dystrophy Sepsis Abnormality of skin pigmentation Vertebral compression fractures Generalized lipodystrophy Cerebral cortical atrophy Broad distal phalanx of finger Hypoplasia of teeth Prominent superficial veins Calcinosis Hypothyroidism Macrotia Osteolytic defects of the phalanges of the hand Breast aplasia Progeroid facial appearance Down-sloping shoulders Gastroesophageal reflux Insulin-resistant diabetes mellitus Premature loss of teeth Short clavicles Arthropathy Prematurely aged appearance Spinal rigidity Wide cranial sutures Hematemesis Hypermelanotic macule Abnormality of the fingertips Hyperreflexia Cognitive impairment Stiff elbow Foamy urine Dystonia Progressive clavicular acroosteolysis Increased facial adipose tissue Absent speech Acroosteolysis of distal phalanges (feet) Loss of subcutaneous adipose tissue in limbs Pneumonia Foot pain Thin clavicles Increased adipose tissue around the neck Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Bird-like facies Mottled pigmentation Reduced subcutaneous adipose tissue High pitched voice Short distal phalanx of finger Dental crowding Osteolysis Wormian bones Gliosis Increased body weight Chorea Brain atrophy Hyperpigmentation of the skin Insulin resistance Sparse scalp hair Atherosclerosis Hypertriglyceridemia Limitation of joint mobility Epidermal acanthosis Abnormality of the cardiovascular system Abnormality of the skin Dental malocclusion Round face Full cheeks Hypertonia Acanthosis nigricans Hyperlipidemia Glucose intolerance Prominent nasal bridge Hyperostosis Hyperglycemia EEG abnormality Muscular hypotonia of the trunk Abnormality of the eye Irritability Wide mouth Retinopathy Small for gestational age Tetraplegia Abnormality of eye movement Absent eyebrow Congenital muscular dystrophy Hyperinsulinemia Poor speech Inability to walk Sleep disturbance Lipodystrophy Dermal atrophy Narrow nose Talipes valgus Renal amyloidosis Unilateral renal dysplasia Lumbar hyperlordosis Nail dysplasia Oral cleft Cleft upper lip Paresthesia Confusion Cleft lip Pes planus Clinodactyly of the 5th finger Parathyroid hypoplasia Aortic regurgitation Abnormality of T cell physiology Unilateral deafness Bilateral renal dysplasia Thickening of the glomerular basement membrane Septate vagina Pseudopapilledema Proximal renal tubular acidosis Distal renal tubular acidosis Hypocalcemic seizures Spina bifida Nephritis Ovarian cyst Concave nail Hypoplasia of first ribs Microphakia Deep-set nails Antecubital pterygium Absent distal interphalangeal creases Cervical ribs Microalbuminuria Aplasia/Hypoplasia of the patella Patellar hypoplasia Ridged nail Anonychia Patellar aplasia Tubulointerstitial nephritis Raynaud phenomenon Blue irides Abnormality of the elbow Patellar dislocation Renal cell carcinoma Keratoconus Colon cancer Limited elbow extension Aplasia of the uterus Vaginal atresia Iliac horns Primary amenorrhea Low-grade fever Ambiguous genitalia, female Ambiguous genitalia, male Gonadoblastoma Male pseudohermaphroditism Aniridia Gonadal dysgenesis Glomerulopathy Nephroblastoma Congenital diaphragmatic hernia Anuria Ambiguous genitalia Amenorrhea Abdominal distention Lethargy Pallor Weight loss Micropenis Recurrent infections Respiratory insufficiency Streak ovary True hermaphroditism Tetany Nephrocalcinosis Severe postnatal growth retardation Hypoparathyroidism Renal tubular acidosis Basal ganglia calcification Unilateral renal agenesis Psoriasiform dermatitis Polycystic kidney dysplasia Polycystic ovaries Ischemic stroke Multicystic kidney dysplasia Ovarian gonadoblastoma Horizontal nystagmus Bilateral sensorineural hearing impairment Ectodermal dysplasia Vesicoureteral reflux Stroke Acidosis Rod-cone dystrophy Abnormal heart morphology Cardiomyopathy Gonadal tissue inappropriate for external genitalia or chromosomal sex Glenoid fossa hypoplasia Hypoplastic radial head Hernia of the abdominal wall Low hanging columella Decreased palmar creases Flat forehead Endocarditis Abnormal anterior chamber morphology Dermal translucency Pneumothorax Ecchymosis Generalized joint laxity Diastasis recti Abnormality of the mouth Abnormality of the duodenum Distal arthrogryposis Absent septum pellucidum Fragile skin Abnormality of the sternum Prolonged bleeding time Atrophic scars Bilateral talipes equinovarus Abnormality of the coagulation cascade Cerebral hemorrhage Hyperalgesia Dysmetria Congenital contracture Abnormal palate morphology Episcleritis Recurrent aphthous stomatitis Abnormality of the nose Broad foot Uveitis Elevated erythrocyte sedimentation rate Restrictive ventilatory defect Abnormality of the voice Urticaria Cranial nerve paralysis Polymicrogyria Conjunctivitis Vasculitis Skin rash Arthritis Arthralgia Abdominal pain Abnormality of metabolism/homeostasis Macrocephaly Minimal change glomerulonephritis Esotropia Bilateral cryptorchidism Hyperextensible skin Thickening of the lateral border of the scapula Short neck Thin upper lip vermilion Umbilical hernia Kyphoscoliosis Respiratory failure Brachycephaly Posteriorly rotated ears Constipation Long philtrum Atrial septal defect Myopia Telecanthus Depressed nasal bridge Motor delay Biceps aplasia Lester's sign Absence of pectoralis minor muscle Elongated radius Triceps aplasia Disproportionate prominence of the femoral medial condyle Quadriceps aplasia Stellate iris Joint laxity Protruding ear Recurrent skin infections High myopia Cutis laxa Microretrognathia Joint dislocation Narrow palate Horseshoe kidney Low anterior hairline Exotropia Nephrolithiasis Blue sclerae Mitral valve prolapse Blepharophimosis Intestinal malrotation Tapered finger Retinal detachment High, narrow palate Bruising susceptibility Thick eyebrow Joint hypermobility Facial asymmetry Broad forehead Short philtrum Projectile vomiting



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Thin upper lip vermilion, related diseases and genetic alterations Feeding difficulties and Limitation of joint mobility, related diseases and genetic alterations Hyperreflexia and Muscle cramps, related diseases and genetic alterations Tremor and Renal cyst, related diseases and genetic alterations

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