Cleft palate, and Hypoglycemia

Diseases related with Cleft palate and Hypoglycemia

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


Top matches:

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 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

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Other less relevant matches:

Low match INTELLECTUAL DISABILITY, BIRK-BAREL TYPE


Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Low match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Low match HYDRANENCEPHALY


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDRANENCEPHALY

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION


Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

Low match COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS


Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Low match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Neonatal hypoglycemia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Macroglossia Nevus flammeus Large for gestational age Enlarged kidney Visceromegaly Diastasis recti Hemihypertrophy Anterior creases of earlobe Abnormal facial shape Strabismus Premature birth Short stature Splenomegaly Abnormality of the kidney Polyhydramnios Hepatomegaly Umbilical hernia Hyperactivity Intellectual disability, severe Feeding difficulties in infancy Muscular hypotonia Poor speech Broad nasal tip Global developmental delay Muscle weakness Delayed puberty Ventricular septal defect Growth delay Auricular pit Microcephaly Patent ductus arteriosus Abdominal wall defect Abnormality of the outer ear Hypogonadism Overgrowth Inguinal hernia Omphalocele Abnormality of the face Micrognathia Hypothyroidism Nephroblastoma

Rare Symptoms - Less than 30% cases


Highly arched eyebrow High palate Babinski sign Midface retrusion Fatigue Hypogonadotrophic hypogonadism Prominent forehead Cleft lip Deeply set eye Hypospadias Growth hormone deficiency Jaundice Cardiomegaly Posterior helix pit Congenital megaureter Mandibular prognathia Proptosis Pulmonic stenosis Depressed nasal tip Full cheeks Polydactyly Long face Severe global developmental delay Autism Neoplasm Prominent nose Abnormality of earlobe Central hypotonia Neuroblastoma Coarse facial features Malar flattening Obesity Depressed nasal ridge Epicanthus Delayed speech and language development Micropenis Abnormality of the ureter Rhabdomyosarcoma Retrognathia Embryonal neoplasm Abnormality of cardiovascular system morphology Hypertelorism Talipes equinovarus Facial asymmetry Urogenital fistula Cupped ear Delayed skeletal maturation Hemifacial hypertrophy Abnormal heart morphology Clinodactyly Hearing impairment Sensorineural hearing impairment Depressed nasal bridge Frontal bossing Anteverted nares Edema Short nose Low-set ears Pneumonia Constipation Mild global developmental delay Agenesis of corpus callosum Osteopenia Abnormality of the eye Infertility Ascites Hypotension Decreased testicular size Amenorrhea Aspiration Hoarse voice Holoprosencephaly Asymmetry of the thorax Capillary hemangioma Abnormal eyebrow morphology Abnormality of the dentition Long palpebral fissure Natal tooth Short columella Short 5th finger Generalized joint laxity Sparse lateral eyebrow Long hallux Prominent fingertip pads Abnormality of the breast Eversion of lateral third of lower eyelids Long eyelashes Respiratory distress Decreased body weight Atrioventricular canal defect Brachycephaly Recurrent otitis media Coarctation of aorta Otitis media Dental malocclusion Hypodontia Optic nerve hypoplasia Synophrys Hematuria Abdominal distention Autistic behavior Hirsutism Fetal polyuria Adrenal insufficiency Severe short stature Ureteral duplication Accelerated skeletal maturation Sleep apnea Arnold-Chiari malformation Relative macrocephaly Hypercalciuria Redundant skin Melanocytic nevus Prominent occiput Neurodevelopmental delay Polycythemia Prominent metopic ridge Exocrine pancreatic insufficiency Multiple renal cysts Gonadoblastoma Otosclerosis Tall stature Infra-orbital crease Large intestinal polyposis Abnormality of the shape of the midface Adrenocortical cytomegaly Abnormality of pancreas morphology Large placenta Branchial cyst Adrenocortical carcinoma Pseudohypoparathyroidism Facial hemangioma Leiomyosarcoma Elevated alpha-fetoprotein Hepatoblastoma Choroideremia Asymmetric growth Wide anterior fontanel Nephrolithiasis Delayed cranial suture closure Short attention span Decreased circulating ACTH level Median cleft lip and palate Anterior pituitary hypoplasia Absence of secondary sex characteristics Pituitary hypothyroidism Concave nasal ridge Aspiration pneumonia Septo-optic dysplasia Severe postnatal growth retardation Hypopituitarism Absent septum pellucidum Prolonged neonatal jaundice Abnormality of digit Hypoplastic left heart Ectopic posterior pituitary Aplasia/Hypoplasia of the breasts Large fontanelles Macrocephaly Congenital diaphragmatic hernia Vesicoureteral reflux Nephropathy Neurological speech impairment Wide mouth Hypertrophic cardiomyopathy Ectopic anterior pituitary gland Pituitary dwarfism Anterior pituitary agenesis Osteoporosis of vertebrae Abnormality of secondary sexual hair Decreased cervical spine mobility Moon facies Abnormal prolactin level Protruding ear Scoliosis Behavioral abnormality Non-midline cleft lip Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation Abnormal sacrum morphology Bilateral renal agenesis Abnormality of female internal genitalia Vaginal atresia Flexion contracture Bicornuate uterus Feeding difficulties Skeletal muscle atrophy Dysphagia Breech presentation Depressivity Tracheoesophageal fistula Exercise-induced muscle fatigue Neonatal hypotonia Unilateral renal agenesis Short philtrum Dolichocephaly Polycystic kidney dysplasia Thick eyebrow High, narrow palate Abnormality of the genitourinary system Abnormal intestine morphology Narrow forehead Sacral dimple Tented upper lip vermilion Dysphonia Spinal muscular atrophy Increased muscle glycogen content Increased intramyocellular lipid droplets Broad eyebrow Muscle cramps Bilateral renal dysplasia Cardiomyopathy Intellectual disability, mild Elevated serum creatine phosphokinase Sirenomelia Urethral obstruction Potter facies Dyspnea Elevated hepatic transaminase Abnormality of the liver Dilated cardiomyopathy Nonketotic hypoglycemia Tachycardia Hepatic steatosis Bifid uvula Reduced antithrombin III activity Chest pain Hepatitis Cardiac arrest Bilateral renal hypoplasia Exercise intolerance Abnormality of the coagulation cascade Rhabdomyolysis Malignant hyperthermia Pierre-Robin sequence Hyperinsulinemic hypoglycemia Small face Type I transferrin isoform profile Chronic hepatitis Decreased serum insulin-like growth factor 1 Oral-pharyngeal dysphagia Tented philtrum Atrial septal defect Lower limb spasticity Aggressive behavior Muscular hypotonia of the trunk Attention deficit hyperactivity disorder Small for gestational age Lactic acidosis Inability to walk Thick vermilion border Downturned corners of mouth Tapered finger Round face Sloping forehead Hypoplasia of penis Tetraparesis Open mouth Progressive microcephaly Difficulty walking Spastic tetraparesis Pancreatitis Widely spaced teeth Drooling Agitation External genital hypoplasia Hypertension Large earlobe Male hypogonadism Abdominal obesity Birth length less than 3rd percentile Tall chin Fever Brachydactyly EEG abnormality Macrotia Submucous cleft soft palate Tethered cord Multicystic kidney dysplasia Renal dysplasia Primary amenorrhea Renal hypoplasia Apnea Renal cyst Psoriasiform dermatitis Supernumerary nipple Oligohydramnios Syringomyelia Renal agenesis Abnormality of the vasculature Skin tags Pulmonary hypoplasia Prune belly Acidosis Hypertonia Proteinuria Gait ataxia Diabetes mellitus Talipes Absent speech Long philtrum Hypoplasia of the corpus callosum Postauricular pit Ventriculomegaly Myopia Hyperreflexia Spasticity Nystagmus Falls Subchorionic septal cyst



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