High palate, and Diabetes mellitus

Diseases related with High palate and Diabetes mellitus

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

Top matches:

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB Is also known as lipodystrophy, type b, associated with mandibuloacral dysplasia

Related symptoms:

  • Growth delay
  • Micrognathia
  • Flexion contracture
  • High palate
  • Abnormality of the skeletal system


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Other less relevant matches:

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

Medium match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

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

Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Top 5 symptoms//phenotypes associated to High palate and Diabetes mellitus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Hirsutism Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Precocious puberty Hyperglycemia Hyperinsulinemia Hypertrichosis Insulin resistance Failure to thrive Seizures Scoliosis Insulin-resistant diabetes mellitus Micrognathia Retrognathia Gingival overgrowth Cognitive impairment Ptosis Dysphagia Respiratory failure Osteopenia Postprandial hyperglycemia Short stature Microcephaly Nystagmus Glucose intolerance Postnatal growth retardation Acanthosis nigricans Amenorrhea Epidermal acanthosis High, narrow palate Hearing impairment Delayed speech and language development Hypogonadism Frontal bossing

Rare Symptoms - Less than 30% cases

Neurological speech impairment Muscular hypotonia of the trunk Abnormal facial shape Strabismus Elevated hepatic transaminase Protruding ear Stage 5 chronic kidney disease Short foot Narrow face Bilateral sensorineural hearing impairment Long face Facial palsy Neonatal hypotonia Muscle weakness Obesity Myopia Agenesis of corpus callosum Hypertension Respiratory insufficiency Generalized hypotonia Skeletal muscle atrophy Macrocephaly Hyperreflexia Poor coordination Epicanthus Ataxia Optic atrophy Clitoral hypertrophy Ovarian cyst Hepatic fibrosis Recurrent respiratory infections Depressed nasal bridge Hypertelorism Abnormality of upper lip Downslanted palpebral fissures Long penis Decreased testicular size Long foot Flat occiput Primary amenorrhea Hypothyroidism Micropenis Specific learning disability Abdominal distention Dysarthria Gait disturbance Small for gestational age Wide mouth Hypoplasia of the uterus High forehead Hypoglycemia Coarse facial features Mandibular prognathia Fasting hypoglycemia Renal insufficiency Nail dysplasia Proptosis Prominent nose Generalized myoclonic seizures Intrauterine growth retardation Abnormality of the skeletal system Alopecia Narrow mouth Lipoatrophy Oligohydramnios Lipodystrophy Joint laxity Hyperlipidemia Sparse hair Umbilical hernia Dental crowding Full cheeks Dehydration Flexion contracture Hypoplastic fingernail Cortical gyral simplification Autoimmune thrombocytopenia Abnormal spermatogenesis Generalized-onset seizure Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Narrow forehead Streak ovary Aplasia/Hypoplasia of the eyebrow Sparse eyebrow Premature ovarian insufficiency Purpura Hypsarrhythmia Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Intellectual disability, profound Increased thyroid-stimulating hormone level Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Syndactyly Retinopathy Abnormality of the liver Coloboma Abnormality of the kidney Reduced visual acuity Polydactyly Glaucoma Rod-cone dystrophy Ventricular septal defect Choreoathetosis Brachydactyly Patent ductus arteriosus Visual impairment Tapered finger Cataract Delayed myelination Progressive alopecia Hypoplasia of the fallopian tube Hallucinations Sparse scalp hair Pathologic fracture Abnormality of the face Overfolded helix Brisk reflexes Babinski sign Abnormality of metabolism/homeostasis Intellectual disability, mild Dystonia Diarrhea Cardiomegaly Neonatal respiratory distress Camptodactyly Peripheral neuropathy Sensorineural hearing impairment Tented philtrum Microalbuminuria Primitive reflex Thin bony cortex Prolonged neonatal jaundice Long palpebral fissure Mental deterioration Prominent nasal bridge Macroglossia Abnormality of extrapyramidal motor function Myocardial infarction Cerebellar vermis hypoplasia Cerebral visual impairment Narrow palate Fine hair Scrotal hypoplasia Psychosis Tented upper lip vermilion CNS hypomyelination Arthrogryposis multiplex congenita Deep philtrum Dental malocclusion Triangular face Polyneuropathy Sensory neuropathy Abnormality of movement Delayed puberty Hypotrichosis Facial shape deformation Paraplegia Pulmonic stenosis Gliosis Abnormal autonomic nervous system physiology Muscle stiffness Leukodystrophy Clonus Diplopia Cerebral calcification Peripheral demyelination Hypotension Chorea Sudden cardiac death Sleep apnea Tetraplegia Sleep disturbance Dysmetria Abnormality of eye movement Nausea and vomiting Abnormality of the cerebral white matter Cough Abnormal pyramidal sign Hyperlordosis Developmental regression Leukoencephalopathy Dysphonia Weight loss Hypothermia Microcoria Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Pseudobulbar signs Large face Hypersomnia Aqueductal stenosis Bulbar signs Megalencephaly Encephalitis Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Progressive spasticity Bowel incontinence Dysphasia Emotional lability Oral-pharyngeal dysphagia Self-injurious behavior EEG abnormality Hyperhidrosis Jaundice Left ventricular hypertrophy Truncal obesity External genital hypoplasia Macular dystrophy Tricuspid regurgitation Radial deviation of finger Clubbing Anosmia Bicuspid aortic valve Situs inversus totalis Aganglionic megacolon Foot polydactyly Abnormality of the genital system Postaxial hand polydactyly Pigmentary retinopathy Asthma Hypodontia Retinal dystrophy Postaxial polydactyly Iris coloboma Retinal degeneration Astigmatism Nephronophthisis Hepatomegaly Dementia Muscular hypotonia Constipation Hyporeflexia Depressivity Kyphosis Vomiting Hydrocephalus Short neck Tremor Motor delay Spasticity Septate vagina Broad foot Hydrometrocolpos Nephrogenic diabetes insipidus Biliary tract abnormality Microphallus Tapetoretinal degeneration Menstrual irregularities Vaginal atresia Abnormality of the ovary Gait imbalance Undetectable electroretinogram Respiratory tract infection Blindness Cerebral cortical atrophy Upslanted palpebral fissure Smooth philtrum Brittle hair Short philtrum Blepharophimosis Telecanthus Delayed cranial suture closure Dyspnea Short clavicles Brachycephaly Abnormality of the dentition Dry skin Respiratory distress Premature loss of teeth Narrow nose Abnormally large globe Osteolytic defects of the phalanges of the hand Abnormality of the neck Neoplasm Hypoplasia of teeth Poor wound healing Arachnodactyly Thin vermilion border Type 1 fibers relatively smaller than type 2 fibers Ovarian neoplasm Choroideremia Thin eyebrow Advanced eruption of teeth Hypertriglyceridemia Thin skin Thick nail Abnormality of the optic nerve Ketoacidosis Protuberant abdomen Short phalanx of finger Dermal atrophy Absent eyebrow Wormian bones Preauricular skin tag Short chin Short palpebral fissure Microdontia Sepsis Hypercholesterolemia Microcornea Abnormality of hair texture Narrow nasal ridge Diabetic ketoacidosis Areflexia Dilated cardiomyopathy Muscular dystrophy Contractures of the large joints Bird-like facies Proximal muscle weakness Osteolytic defects of the distal phalanges of the hand Loss of facial adipose tissue Increased adipose tissue around the neck Increased intraabdominal fat Myopathy Limb muscle weakness Cardiomyopathy Acroosteolysis of distal phalanges (feet) Progressive clavicular acroosteolysis Prominent superficial blood vessels Reduced intrathoracic adipose tissue Increased subcutaneous truncal adipose tissue Increased circulating free fatty acid level Loss of truncal subcutaneous adipose tissue Abnormal tongue morphology Ophthalmoplegia Lower limb muscle weakness Spinal deformities Infantile muscular hypotonia Abnormal glucose tolerance Limb joint contracture Nemaline bodies Difficulty running Centrally nucleated skeletal muscle fibers Weak cry Glycosuria Bulbar palsy Multiple joint contractures Respiratory insufficiency due to muscle weakness Mottled pigmentation Congenital hip dislocation Generalized lipodystrophy Progressive muscle weakness Clumsiness Atrial fibrillation Lumbar hyperlordosis Decreased fetal movement Waddling gait Generalized muscle weakness Loss of subcutaneous adipose tissue in limbs Abnormal lip morphology Chorioretinal dystrophy Prominent occiput Renal hypoplasia Focal impaired awareness seizure Schizophrenia Renal hypoplasia/aplasia Multicystic kidney dysplasia Horizontal nystagmus Sparse and thin eyebrow Large fontanelles Recurrent urinary tract infections Small nail Abnormality of earlobe Unilateral renal agenesis Highly arched eyebrow Abdominal wall defect Short palm Small anterior fontanelle Facial asymmetry Hypermetropia Nail dystrophy Neonatal insulin-dependent diabetes mellitus Hydronephrosis Language impairment Long fingers Abnormality of the placenta Ureteral atresia Shallow orbits Cerebellar hypoplasia Pneumonia Decreased adipose tissue around neck Hypoplasia of the corpus callosum Anteverted nares Unicornuate uterus Pancreatic aplasia Pica Aplasia of the vagina Shawl scrotum Hypoplasia of the bladder Ureterocele Hyperconvex nail Subcortical cerebral atrophy Urethral stenosis Hyperechogenic kidneys Long toe Aplasia of the uterus Maturity-onset diabetes of the young Upper limb undergrowth Labial hypertrophy Autism Muscle flaccidity Hyperkeratosis Generalized hirsutism Gynecomastia Cholestasis Thick lower lip vermilion Type II diabetes mellitus Thick vermilion border Feeding difficulties in infancy Low-set, posteriorly rotated ears Macrotia Severe short stature Cachexia Abnormality of skin pigmentation Delayed skeletal maturation Inguinal hernia Hernia Recurrent infections Premature birth Low-set ears Onychauxis Convex nasal ridge Cutis laxa Large hands Cerebral atrophy Pancreatic islet-cell hyperplasia Malar flattening Behavioral abnormality Short nose Asymmetry of the breasts Prominent nipples Adipose tissue loss Elfin facies Female pseudohermaphroditism Absence of subcutaneous fat Abnormality of the abdominal wall Decreased muscle mass Thick nasal alae Joint stiffness Small face Concave nasal ridge Severe failure to thrive Thickened nuchal skin fold Hearing abnormality Severe intrauterine growth retardation Reduced subcutaneous adipose tissue Hypermelanotic macule Diffuse demyelination of the cerebral white matter


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