Cleft palate, and Coma

Diseases related with Cleft palate and Coma

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


Top matches:

Low match PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Low match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Low 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

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Other less relevant matches:

Low match ENLARGED PARIETAL FORAMINA


Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.

ENLARGED PARIETAL FORAMINA Is also known as fpp|cranium bifidum occultum|fenestrae parietales symmetricae|hereditary cranium bifidum|catlin marks|pfm|parietal foramina, symmetric|cranium bifidum, hereditary|symmetric parietal foramina|foramina parietalia permagna

Related symptoms:

  • Seizures
  • Cleft palate
  • Macrocephaly
  • Headache
  • Confusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about ENLARGED PARIETAL FORAMINA

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 METATROPIC DYSPLASIA


Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Low match AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS


Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

Low match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Low match BARTSOCAS-PAPAS SYNDROME


Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

BARTSOCAS-PAPAS SYNDROME Is also known as pterygium, popliteal, lethal type|autosomal recessive popliteal pterygium syndrome|bps|lethal popliteal pterygium syndrome|multiple pterygium syndrome, aslan type|bartsocas-papas syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BARTSOCAS-PAPAS 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

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Confusion Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hypertelorism Flexion contracture Cleft upper lip Intrauterine growth retardation Cataract Renal insufficiency Nephropathy Cleft lip Respiratory failure Low-set ears High forehead Muscular hypotonia Depressed nasal bridge Macrocephaly Growth delay Severe short stature Spina bifida Hearing impairment Renal dysplasia Kyphosis Oral cleft Arthrogryposis multiplex congenita Cryptorchidism Ventriculomegaly Agenesis of corpus callosum Scoliosis High palate Acidosis Global developmental delay Generalized hypotonia

Rare Symptoms - Less than 30% cases


Pain Weight loss Hypoplastic male external genitalia Anonychia Talipes equinovarus Joint stiffness Hyperlordosis Abnormality of the urinary system Pes planus Talipes Pterygium Osteoporosis Finger syndactyly Abnormality of the intervertebral disk Abnormal form of the vertebral bodies Intracerebral periventricular calcifications Obesity Abnormality of cardiovascular system morphology Short neck Brachydactyly Abnormality of the metaphysis Glaucoma Abnormality of the ribs Neoplasm Abnormality of the genital system Nephrotic syndrome Congenital diaphragmatic hernia Ambiguous genitalia Microphthalmia Corneal opacity Abnormality of the kidney Proteinuria Hernia Edema Hypertension Microcornea Glomerulonephritis Spina bifida occulta Encephalocele Hydrocephalus Clinodactyly of the 5th finger Kyphoscoliosis Low-set, posteriorly rotated ears Hypoplasia of the odontoid process Short thorax Abnormality of neuronal migration Epiphyseal dysplasia Camptodactyly of finger Hypoplastic toenails Platyspondyly Wide intermamillary distance Hypoglycemia Hypertonia Hepatic failure Hypoplasia of the corpus callosum Lethargy Respiratory distress Dilatation Pectus excavatum Optic atrophy Neonatal hypotonia Metabolic acidosis Hydronephrosis Elevated hepatic transaminase Prominent forehead Anemia Congestive heart failure Elevated serum creatine phosphokinase Epicanthus Posteriorly rotated ears Polymicrogyria Hepatomegaly Hypoplasia of first ribs Coloboma Retinopathy Albuminuria Deep-set nails Antecubital pterygium Protruding ear Glenoid fossa hypoplasia Muscular dystrophy Iliac horns Microphakia Absent distal interphalangeal creases Proptosis Microtia Congenital cataract Abnormality of the cerebral white matter Blue irides Severe muscular hypotonia Heterotopia Pachygyria Cerebellar vermis hypoplasia Intellectual disability, profound Hypoplasia of penis Specific learning disability Dandy-Walker malformation Renal cell carcinoma Patellar dislocation Bifid uvula Abnormality of the elbow Raynaud phenomenon Congenital nephrotic syndrome Tubulointerstitial nephritis Patellar aplasia Ridged nail Retinal detachment Retinal dystrophy Iris coloboma Concave nail Patellar hypoplasia Aplasia/Hypoplasia of the patella Microalbuminuria Anal atresia Cervical ribs Cerebellar hypoplasia Hypoplastic radial head Skeletal muscle atrophy Hyporeflexia Umbilical hernia Vertebral segmentation defect Prominent occiput Preaxial polydactyly Scapular winging Hemivertebrae Abnormal vertebral morphology Elongated radius Broad forehead Respiratory tract infection Polydactyly Abnormality of the ureter Recurrent respiratory infections Inguinal hernia Hypospadias Long philtrum Atrial septal defect Absence of pectoralis minor muscle Anteverted nares Lester's sign Absent primary metaphyseal spongiosa Hyperplasia of the femoral trochanters Abnormality of immune system physiology Double outlet right ventricle Areflexia Abnormality of the odontoid process Thickening of the lateral border of the scapula Myopathy Blindness Intellectual disability, severe Frontal bossing Optic nerve hypoplasia Myopia Muscle weakness Rib segmentation abnormalities Block vertebrae Meningocele Stellate iris Cervical C2/C3 vertebral fusion Quadriceps aplasia Urogenital fistula Disproportionate prominence of the femoral medial condyle Triceps aplasia Abnormality of female internal genitalia Anomalous pulmonary venous return Rib fusion Disproportionate short-trunk short stature Lissencephaly Congenital glaucoma Atresia of the external auditory canal Sensorineural hearing impairment Bilateral cryptorchidism Absent eyebrow Cupped ear Ectropion Symblepharon Renal hypoplasia/aplasia Sacral dimple Narrow palpebral fissure Opacification of the corneal stroma Short thumb Cafe-au-lait spot Bilateral cleft palate Short phalanx of finger Ptosis Nail dystrophy Paresthesia Omphalocele Sparse scalp hair Short palpebral fissure Renal hypoplasia Small nail Underdeveloped nasal alae Mask-like facies Aplasia/Hypoplasia of the eyebrow Toe syndactyly Prominent superficial veins Unilateral renal hypoplasia Synostosis of joints Oral synechia Aplasia/Hypoplasia of the distal phalanges of the toes Popliteal pterygium Ankyloblepharon Sparse or absent eyelashes Short sternum Alopecia totalis Labial hypoplasia Sparse lower eyelashes Truncal obesity Eyelid coloboma Hypoplastic scapulae Hypoplastic labia majora Skin tags Absent eyelashes Median cleft lip Anal stenosis Aplasia cutis congenita Facial cleft Multiple cafe-au-lait spots Absent thumb Hypoplasia of the maxilla Blepharophimosis Congenital contracture Abnormality of the optic nerve Excessive daytime sleepiness Agyria Keratoconus Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Peters anomaly Aqueductal stenosis Buphthalmos Abnormal cortical gyration Posterior fossa cyst Retinal dysplasia Bilateral cleft lip Megalocornea Retinal atrophy Submucous cleft hard palate Occipital encephalocele Absent septum pellucidum Adactyly Hypoplasia of the brainstem Anophthalmia Congenital muscular dystrophy Remnants of the hyaloid vascular system Colon cancer Hematuria Thick cerebral cortex Narrow mouth Nail dysplasia Alopecia Dumbbell-shaped metaphyses Syndactyly Short nose Lumbar hyperlordosis Recurrent urinary tract infections Micrognathia Abnormal aldolase level Aplasia/Hypoplasia involving the skeletal musculature Limited elbow extension Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Aortic regurgitation Macrogyria Severe hydrocephalus Metatarsus valgus Abnormality of the cerebellar vermis Nephritis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Halberd-shaped pelvis Gonadal tissue inappropriate for external genitalia or chromosomal sex Long coccyx Abnormality of nervous system morphology Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Increased muscle lipid content Nonketotic hypoglycemia Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Biventricular hypertrophy Long toe Antenatal intracerebral hemorrhage Ureteral duplication Cystic renal dysplasia Hypoketotic hypoglycemia Hypothermia Heart block Enlarged kidney Hyperkalemia Cerebral hemorrhage Overfolded helix Polycystic kidney dysplasia Ventricular arrhythmia Tapered toe Decreased plasma total carnitine Narrow palate Jaundice Dehydration Microdontia Triangular face Recurrent fractures Neutropenia Thin vermilion border Genu valgum Hypermetropia Hip dislocation Irritability Hepatosplenomegaly Osteopenia Elevated serum long-chain fatty acids Hypothyroidism Brachycephaly Diabetes mellitus Upslanted palpebral fissure Delayed skeletal maturation Abnormal heart morphology Diarrhea Gait disturbance Motor delay Spasticity Long-chain dicarboxylic aciduria Hyperammonemia Knee flexion contracture Blue sclerae Lactic acidosis Lipoma Difficulty running Partial agenesis of the corpus callosum Spastic diplegia Trigonocephaly Broad-based gait Progressive neurologic deterioration Tetraparesis Spastic tetraplegia Increased serum lactate Hemolytic anemia Unsteady gait Corpus callosum atrophy Abnormality of eye movement Spastic paraplegia Severe global developmental delay Muscular hypotonia of the trunk Thin upper lip vermilion Cerebral atrophy Dystonia Vomiting Dysarthria Failure to thrive Ataxia Poor coordination Severe lactic acidosis Multicystic kidney dysplasia Apnea Elbow flexion contracture Cardiomegaly Oligohydramnios Sloping forehead Aciduria Tapered finger Hepatic steatosis Bulbous nose Abnormality of the foot Dilated cardiomyopathy Feeding difficulties in infancy Arrhythmia Poor fine motor coordination Cardiomyopathy Fatigue Hyperreflexia Feeding difficulties Poor gross motor coordination Projectile vomiting Subependymal cysts Periventricular cysts Decreased activity of the pyruvate dehydrogenase complex Hyperalaninemia Increased serum pyruvate Hepatitis Abnormality of epiphysis morphology Abnormal metaphyseal vascular invasion Low-grade fever Limb undergrowth Peripheral axonal neuropathy Micromelia Narrow chest Skeletal dysplasia Midface retrusion Ovarian gonadoblastoma True hermaphroditism Anuria Streak ovary Uterus didelphys Osteoarthritis Ambiguous genitalia, female Diffuse mesangial sclerosis Ambiguous genitalia, male Abnormal renal physiology Gonadoblastoma Male pseudohermaphroditism Aniridia Gonadal dysgenesis Glomerulopathy Focal segmental glomerulosclerosis Nephroblastoma Interphalangeal joint contracture of finger Short ribs Primary amenorrhea Caudal appendage Relatively short spine Snail-like ilia Flared humeral metaphysis Short diaphyses Hypoplastic cervical vertebrae Flared femoral metaphysis Anisospondyly Abnormal enchondral ossification Cervical instability Severe platyspondyly Pseudoarthrosis Long thorax Akinesia Thoracic kyphoscoliosis Rough bone trabeculation Spondylometaphyseal dysplasia Enlarged joints Flared iliac wings Abnormal cortical bone morphology Fetal akinesia sequence Aplasia/Hypoplasia of the lungs Abnormal joint morphology Short finger Multiple joint contractures Glomerulosclerosis Amenorrhea Coxa valga Irregular vertebral endplates Thoracolumbar kyphosis Carpal bone hypoplasia Enlarged thorax Small epiphyses Thin bony cortex Multiple epiphyseal dysplasia Acute hepatic failure Barrel-shaped chest Renal tubular dysfunction Cone-shaped epiphyses of the phalanges of the hand Ketoacidosis Overweight Flattened epiphysis Insulin-resistant diabetes mellitus Exocrine pancreatic insufficiency Hyperuricemia Glycosuria Steatorrhea Neurodevelopmental delay Spondyloepiphyseal dysplasia Preauricular pit Hyperglycemia Wormian bones Type I diabetes mellitus Narrow iliac wings Central hypothyroidism Abdominal distention Ivory epiphyses of the toes Stage 5 chronic kidney disease Pallor Micropenis Recurrent infections Fever Nystagmus Symmetrical, oval parietal bone defects Parietal foramina Aplasia cutis congenita of scalp Calvarial skull defect Headache Irregular tarsal ossification Pancreatic hypoplasia Ivory epiphyses of the phalanges of the hand 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 Chronic hepatic failure Atlantoaxial dislocation Decreased hip abduction Hip subluxation Biceps aplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Congenital muscular dystrophy, related diseases and genetic alterations Myopia and Deeply set eye, related diseases and genetic alterations Congestive heart failure and Arthrogryposis multiplex congenita, related diseases and genetic alterations Immunodeficiency and Sparse scalp hair, related diseases and genetic alterations

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