Cleft palate, and Hyperinsulinemia

Diseases related with Cleft palate and Hyperinsulinemia

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


Top matches:

Medium match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Low match PERLMAN SYNDROME


Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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Other less relevant matches:

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB


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

Low match MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD


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

Low match OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE


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

Low 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

Low match PRADER-WILLI SYNDROME DUE TO A POINT MUTATION


SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

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 ARTERIAL TORTUOSITY SYNDROME; ATS


ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Insulin resistance Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hyperglycemia

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Scoliosis Hypertelorism Cryptorchidism Ptosis Respiratory distress Glucose intolerance Flexion contracture Retrognathia Global developmental delay Acanthosis nigricans Neoplasm Short nose Insulin-resistant diabetes mellitus Proptosis Failure to thrive Postnatal growth retardation Epidermal acanthosis Hypoglycemia Lipodystrophy Abnormality of the skeletal system Umbilical hernia Small for gestational age Abnormality of skin pigmentation Short palpebral fissure Epicanthus Feeding difficulties Strabismus Abdominal distention Hernia Hypospadias Inguinal hernia Convex nasal ridge Abnormality of the kidney Smooth philtrum High, narrow palate Thin skin Diabetes mellitus Microcephaly Seizures Increased body weight Respiratory failure Muscle weakness Delayed puberty Fatigue Long face Hirsutism Postprandial hyperglycemia Hypogonadism Wide mouth

Rare Symptoms - Less than 30% cases


Decreased fertility in males Hyperkeratosis Long penis Alopecia Full cheeks Narrow mouth Joint stiffness Sparse hair Macrotia Nail dysplasia Fasting hypoglycemia Hypertriglyceridemia Long foot Hearing abnormality Hypermelanotic macule Gynecomastia Severe short stature Nystagmus Cataract Scarring Intrauterine growth retardation Frontal bossing Headache Upslanted palpebral fissure Telangiectasia Osteoporosis Hypertension Reduced subcutaneous adipose tissue Vertigo Wormian bones Bruising susceptibility Cutis laxa Dental crowding Hyperlipidemia Short chin Skeletal muscle atrophy Hearing impairment Osteolytic defects of the distal phalanges of the hand Narrow face Increased adipose tissue around the neck Decreased fetal movement Acroosteolysis of distal phalanges (feet) Progressive clavicular acroosteolysis Dysphagia Abnormality of the dentition Respiratory insufficiency Muscular dystrophy Joint laxity Myopathy Proximal muscle weakness Neonatal hypotonia Osteopenia Myopia Mottled pigmentation Absent eyebrow Lipoatrophy Clitoral hypertrophy Precocious puberty Hypertrichosis Sepsis Arachnodactyly Delayed cranial suture closure Blepharophimosis Short clavicles Loss of subcutaneous adipose tissue in limbs Coarse facial features Premature loss of teeth Narrow nose Osteolytic defects of the phalanges of the hand Hypoplasia of teeth Mandibular prognathia Narrow nasal ridge Generalized lipodystrophy Bird-like facies Dermal atrophy Hyperinsulinemic hypoglycemia Prominent forehead Low-set ears Depressed nasal bridge Hepatomegaly Abnormality of the liver Macrocephaly Anteverted nares Edema Renal insufficiency Dyspnea Hypothyroidism Muscular hypotonia of the trunk Dilated cardiomyopathy Hyperlordosis Dolichocephaly Round face Specific learning disability Abnormality of the cardiovascular system Congenital diaphragmatic hernia Lumbar hyperlordosis Open mouth Hepatic fibrosis Fever Cardiomyopathy Muscular hypotonia Polyhydramnios Small face Abnormality of upper lip Pancreatic islet-cell hyperplasia Hypogonadotrophic hypogonadism Telecanthus Depressivity Obesity Absent speech Rhabdomyolysis Kyphosis Short neck Talipes equinovarus Abnormality of the optic nerve Brachydactyly Clinodactyly Asymmetry of the breasts Exercise intolerance Prominent nipples Adipose tissue loss Short philtrum Elfin facies Female pseudohermaphroditism Dry skin Abnormality of the coagulation cascade Constipation Abnormality of the abdominal wall Small hand Microretrognathia Elevated serum creatine phosphokinase Exotropia Narrow forehead Wide intermamillary distance Esotropia Sleep disturbance Tapered finger Short foot Inability to walk Malignant hyperthermia Thick eyebrow Talipes Arthrogryposis multiplex congenita Autistic behavior Apnea Camptodactyly Gastroesophageal reflux Autism Micropenis Hyperhidrosis Absence of subcutaneous fat Ovarian cyst Thick nasal alae Ketoacidosis Cleft lip Muscle cramps Recurrent respiratory infections Delayed skeletal maturation Recurrent infections Cognitive impairment Flat occiput Ovarian neoplasm Protuberant abdomen Onychauxis Feeding difficulties in infancy Muscle flaccidity Chorioretinal dystrophy Diabetic ketoacidosis Abnormal lip morphology Choroideremia Thin eyebrow Advanced eruption of teeth Hepatic steatosis Tachycardia Low-set, posteriorly rotated ears Thick vermilion border Thick nail Large hands Thin vermilion border Concave nasal ridge Microcornea Severe failure to thrive Thickened nuchal skin fold Severe intrauterine growth retardation Cardiac arrest Microdontia Decreased muscle mass Cachexia Bifid uvula Hepatitis Adducted thumb Generalized hirsutism Elevated hepatic transaminase Gingival overgrowth Cholestasis Preauricular skin tag Thick lower lip vermilion Type II diabetes mellitus Chest pain Sleep apnea Hypoplasia of the abdominal wall musculature Poor suck Aortic valve stenosis Aortic root aneurysm Keratoconus Atrophic scars Blurred vision Impotence Epiphora Heart murmur Hyperextensible skin Easy fatigability Ischemic stroke Aortic regurgitation Recurrent pneumonia Diplopia Growth hormone excess Ventricular hypertrophy Amenorrhea Progressive visual loss Hypotension Pulmonic stenosis Pectus carinatum Stroke Pallor Pectus excavatum Dilatation Long philtrum Vomiting Tracheomalacia Pulmonary artery stenosis Downslanted palpebral fissures Sudden loss of visual acuity Abnormality of hair density Telangiectases of the cheeks Internal ophthalmoplegia Curved fingers Generalized arterial tortuosity Soft, doughy skin Fourth cranial nerve palsy Cranial nerve VI palsy Bitemporal hemianopia Adrenocorticotropin deficient adrenal insufficiency Dyspareunia Female hypogonadism Decreased circulating ACTH level Soft skin Decreased female libido Arterial tortuosity Decreased fertility in females Secondary growth hormone deficiency Galactorrhea Oculomotor nerve palsy Rectal prolapse Abnormal thrombosis Bladder diverticulum Adrenocorticotropic hormone deficiency Pituitary hypothyroidism Male hypogonadism Hiatus hernia Blindness Stiff elbow Pterygium Excessive salivation Short distal phalanx of finger Hypotrichosis Nail dystrophy Paralysis Rigidity Intellectual disability, mild Pain Intermittent hyperventilation Narrow palm Temperature instability Multiple pterygia Abnormality of the philtrum Misalignment of teeth Abnormality of the skin Fetal akinesia sequence Hyperventilation Hypoventilation Delayed ability to walk Short humerus Polyphagia Limited elbow extension Rocker bottom foot Akinesia Impulsivity Trigonocephaly Brachycephaly Dental malocclusion Nephrotic syndrome Foamy urine Vertebral compression fractures Increased facial adipose tissue Abnormality of the fingertips Foot pain Thin clavicles Aplasia/Hypoplasia of the clavicles Limb-girdle muscle atrophy Hematemesis Breast aplasia Wide cranial sutures Broad distal phalanx of finger Prominent superficial veins Calcinosis Progeroid facial appearance Sparse scalp hair Down-sloping shoulders Arthropathy Prematurely aged appearance Spinal rigidity High pitched voice Focal segmental glomerulosclerosis Hyperostosis Congenital muscular dystrophy Glomerulosclerosis Atherosclerosis Osteolysis Hyperpigmentation of the skin Large fontanelles Failure to thrive in infancy Glycosuria Pierre-Robin sequence Abnormal vertebral morphology Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Leukopenia Type I diabetes mellitus Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Neurodevelopmental delay Abnormality of the urinary system Short thumb Cafe-au-lait spot Hamartoma Recurrent urinary tract infections Aganglionic megacolon Abnormality of the genital system Choanal atresia Enlarged kidney Pancytopenia Oligohydramnios Sloping forehead Abnormality of vision Myelodysplasia Renal agenesis Aplasia/Hypoplasia of the radius Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Large for gestational age External ear malformation Irregular hyperpigmentation Absent radius Triphalangeal thumb Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Hydroureter Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Global brain atrophy Tracheoesophageal fistula Tetralogy of Fallot Lymphoma Abnormality of the thumb Visual impairment Thrombocytopenia Abnormality of cardiovascular system morphology Intestinal atresia Microphthalmia Congestive heart failure Atrial septal defect Hydrocephalus Ventriculomegaly Broad alveolar ridges Long upper lip Hyperreflexia Lumbar scoliosis Abnormal heart morphology Anemia Fetal ascites Thymus hyperplasia Nephroblastomatosis Ataxia Abnormality of pancreas morphology Naevus flammeus of the eyelid Prominent xiphoid process Distal ileal atresia Ileal atresia Nephrogenic rest Patent ductus arteriosus Clinodactyly of the 5th finger Hypopigmentation of the skin Thick upper lip vermilion Neutropenia Capillary hemangioma Polysplenia Renal neoplasm Astigmatism Anal atresia Facial asymmetry Abnormality of the foot Toe syndactyly Hip dislocation Finger syndactyly Leukemia Femoral hernia Abnormal cardiac septum morphology Volvulus Irritability Abnormality of the eye Hypertrophic cardiomyopathy Carcinoma Pes planus Hypoxemia Thickened helices Weight loss Visceromegaly Interrupted aortic arch Abnormality of the testis Bicornuate uterus Optic atrophy Increased circulating free fatty acid level Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation Areflexia Wide nasal bridge Facial shape deformation Decreased adipose tissue around neck Abnormal tongue morphology Loss of truncal subcutaneous adipose tissue Increased subcutaneous truncal adipose tissue Increased intramyocellular lipid droplets Reduced intrathoracic adipose tissue Prominent superficial blood vessels Increased intraabdominal fat Loss of facial adipose tissue Cerebral atrophy Contractures of the large joints Agenesis of corpus callosum Posteriorly rotated ears High forehead Abnormality of hair texture Poor wound healing Facial palsy Ophthalmoplegia Abnormality of the neck Infantile muscular hypotonia Type 1 fibers relatively smaller than type 2 fibers Spinal deformities Abnormal glucose tolerance Limb joint contracture Nemaline bodies Difficulty running Centrally nucleated skeletal muscle fibers Weak cry Renal hamartoma Bulbar palsy Multiple joint contractures Respiratory insufficiency due to muscle weakness Limb muscle weakness Congenital hip dislocation Type I transferrin isoform profile Progressive muscle weakness Clumsiness Atrial fibrillation Chronic hepatitis Waddling gait Generalized muscle weakness Decreased serum insulin-like growth factor 1 Reduced antithrombin III activity Lower limb muscle weakness Hepatosplenomegaly Hypoplastic fingernail Abnormality of femur morphology Meckel diverticulum Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Nephroblastoma Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Duplicated collecting system Prolonged G2 phase of cell cycle Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormal carotid artery morphology Anemic pallor Deeply set eye Cardiomegaly Abnormally large globe Hydronephrosis Abnormality of the pinna Flat face Ascites Macroglossia Brittle hair Hypercholesterolemia Overgrowth Hypoplasia of penis Short phalanx of finger Status epilepticus Deficient excision of UV-induced pyrimidine dimers in DNA Renal dysplasia Premature birth Tall stature Bilateral single transverse palmar creases Tented upper lip vermilion Growth abnormality Polycystic kidney dysplasia Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Aortic tortuosity



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