Cleft palate, and Delayed puberty

Diseases related with Cleft palate and Delayed puberty

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


Top matches:

Medium match HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Osteoporosis
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20

Medium match HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12 Is also known as figd|eunuchoidism, familial hypogonadotropic|gonadotropin deficiency, familial idiopathic

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Hypogonadism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12

Medium match NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM


NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

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Other less relevant matches:

Medium match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

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

Low match HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'Although HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction (Sykiotis et al., 2010). Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without AnosmiaOther forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 (OMIM ), caused by mutation in the PROKR2 gene (OMIM ); HH4 (OMIM ), caused by mutation in the PROK2 gene (OMIM ); HH5 (OMIM ), caused by mutation in the CHD7 gene (OMIM ); HH6 (OMIM ), caused by mutation in the FGF8 gene (OMIM ); HH7 (OMIM ), caused by mutation in the GNRHR gene (OMIM ); HH8 (OMIM ), caused by mutation in the KISS1R gene (OMIM ); HH9 (OMIM ), caused by mutation in the NELF gene (OMIM ); HH10 (OMIM ), caused by mutation in the TAC3 gene (OMIM ); HH11 (OMIM ), caused by mutation in the TACR3 gene (OMIM ); HH12 (OMIM ), caused by mutation in the GNRH1 gene (OMIM ); HH13 (OMIM ), caused by mutation in the KISS1 gene (OMIM ); HH14 (OMIM ), caused by mutation in the WDR11 gene (OMIM ); HH15 (OMIM ), caused by mutation in the HS6ST1 gene (OMIM ); HH16 (OMIM ), caused by mutation in the SEMA3A gene (OMIM ); HH17 (OMIM ), caused by mutation in the SPRY4 gene (OMIM ); HH18 (OMIM ), caused by mutation in the IL17RD gene (OMIM ); HH19 (OMIM ), caused by mutation in the DUSP6 gene (OMIM ); HH20 (OMIM ), caused by mutation in the FGF17 gene (OMIM ); HH21 (OMIM ), caused by mutation in the FLRT3 gene (OMIM ); HH22 (OMIM ), caused by mutation in the FEZF1 gene (OMIM ); HH23 (OMIM ), caused by mutation in the LHB gene (OMIM ); and HH24 (OMIM ), caused by mutation in the FSHB gene (OMIM ).There is also an X-linked form of the disorder (HH1 ), caused by mutation in the KAL1 gene (OMIM ).There is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by Chan, 2011). Sykiotis et al. (2010), for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.To assess oligogenicity in hypogonadotropic hypogonadism, Miraoui et al. (2013) analyzed 350 HH probands of European descent for mutation in 17 HH-associated genes. Mutations were identified in 124 (35%) of the probands, and 24 (19%) of the mutation-positive probands carried at least 2 mutant alleles from different genes. Miraoui et al. (2013) noted that 23 of the 24 oligogenic cases involved at least 1 gene associated with the fibroblast growth factor (FGF) network (see {601513}).Dode et al. (2006) stated that loss-of-function mutations in the KAL1 (OMIM ) and FGFR1 genes account for approximately 20% of all cases of Kallmann syndrome and that mutations in the PROKR2 and PROK2 genes account for an additional 10%.Gurbuz et al. (2012) reviewed all causative mutations detected in multiplex families with normosmic hypogonadotropic hypogonadism over a 7-year period in Turkey. Mutations that segregated with disease were identified in 17 (77.2%) of 22 families studied, including mutations of the GNRHR gene in 7 (31.8%) of the families, TACR3 in 6 (27.2%), KISSR in 2 (9%), TAC3 in 1 (4.5%), and KISS1 in 1 (4.5%). Inheritance was autosomal recessive in all 17 families.Valdes-Socin et al. (2014) reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 Is also known as kallmann syndrome 2|kal2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2

Low match KALLMANN SYNDROME


Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN SYNDROME

Low match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Low match BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

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

Top 5 symptoms//phenotypes associated to Cleft palate and Delayed puberty

Symptoms // Phenotype % cases
Hypogonadism Common - Between 50% and 80% cases
Hypogonadotrophic hypogonadism Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Micropenis Common - Between 50% and 80% cases
Cleft lip Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Anosmia

Uncommon Symptoms - Between 30% and 50% cases


Primary amenorrhea Sensorineural hearing impairment Hearing impairment Decreased testicular size Short stature Gynecomastia Hyposmia Osteopenia Renal agenesis Micrognathia Microphallus Osteoporosis Bimanual synkinesia Hypertelorism Growth delay Reduced number of teeth

Rare Symptoms - Less than 30% cases


Muscle weakness Abnormal facial shape Holoprosencephaly Hypothalamic gonadotropin-releasing hormone deficiency Unilateral renal agenesis Hypoglycemia Hypotelorism Ichthyosis Fatigue Choanal atresia Bifid uvula Intellectual disability Neoplasm Abnormality of cardiovascular system morphology Coloboma Cleft upper lip Iris coloboma Seizures Nystagmus Visual impairment Obesity Hypoplasia of penis Hypospadias Broad nasal tip Autism Oral cleft Muscular hypotonia Decreased serum testosterone level Delayed skeletal maturation Gonadotropin deficiency Absence of secondary sex characteristics Male hypogonadism Breast hypoplasia Eunuchoid habitus Hypoplasia of the ovary Hypoplasia of the uterus Abnormality of the voice Pes cavus High palate Ataxia Azoospermia Acute leukemia Ventricular hypertrophy Autistic behavior Neutropenia Migraine Tetralogy of Fallot Mitral valve prolapse Depressed nasal ridge Thick lower lip vermilion Tracheomalacia Mitral regurgitation Abnormality of the genital system Increased mean corpuscular volume Melanoma Abnormality of the urinary system Abnormality of the hand Esophagitis Triphalangeal thumb Macrocytic anemia Short thumb Patent ductus arteriosus Pallor Abnormality of the sense of smell Scrotal hypoplasia Limb-girdle muscular dystrophy Anophthalmia Preauricular pit Agenesis of permanent teeth Hypoplastic labia majora Lacrimation abnormality Hypoplasia of teeth Diastema Lacrimal duct stenosis Aplasia/Hypoplasia involving the nose Retrognathia Frontal encephalocele Aplasia of the nose Absent paranasal sinuses Failure to thrive Anemia Intrauterine growth retardation Ventricular septal defect Atrial septal defect Short nose Reticulocytopenia Arrhythmia Cleft soft palate Abnormality of the eye Fetal distress Open mouth Lactic acidosis Long face Inability to walk Thick vermilion border Downturned corners of mouth Tapered finger Full cheeks Round face Growth hormone deficiency Sloping forehead Tetraparesis Lower limb spasticity Severe global developmental delay Progressive microcephaly Spastic tetraparesis Pancreatitis Widely spaced teeth Drooling Agitation External genital hypoplasia Depressed nasal tip Large earlobe Abdominal obesity Birth length less than 3rd percentile Poor speech Small for gestational age Persistence of hemoglobin F Intellectual disability, severe Global developmental delay Encephalocele Microcephaly Strabismus Spasticity Delayed speech and language development Hyperreflexia Myopia Talipes equinovarus Ventriculomegaly Hypoplasia of the corpus callosum Hypertonia Attention deficit hyperactivity disorder Long philtrum Absent speech Babinski sign Diabetes mellitus Hyperactivity Gait ataxia Acidosis Macrotia Difficulty walking EEG abnormality Aggressive behavior Muscular hypotonia of the trunk Generalized hypotonia Inguinal hernia Dental malocclusion Chest pain Hypothyroidism Dyspnea Impotence Elevated hepatic transaminase Abnormality of the liver Dilated cardiomyopathy Tachycardia Hepatic steatosis Muscle cramps Congenital sensorineural hearing impairment Hepatitis Elevated serum creatine phosphokinase Cardiac arrest Exercise intolerance Abnormality of the coagulation cascade Rhabdomyolysis Malignant hyperthermia Pierre-Robin sequence Hyperinsulinemic hypoglycemia Small face Type I transferrin isoform profile Chronic hepatitis Prominent forehead Intellectual disability, mild Reduced antithrombin III activity Female hypogonadism Facial asymmetry Increased female libido Abnormality of body height Absence of pubertal development Bilateral cryptorchidism Anodontia Sparse pubic hair Non-obstructive azoospermia Abnormal renal morphology Testicular atrophy Bilateral renal agenesis Cardiomyopathy Alobar holoprosencephaly Decreased circulating luteinizing hormone level Olfactory lobe agenesis Decreased circulating follicle stimulating hormone level Leydig cell insensitivity to gonadotropin Total anosmia Decreased testosterone in males Generalized joint laxity Secondary amenorrhea Fever Sparse body hair Decreased serum insulin-like growth factor 1 Increased intramyocellular lipid droplets Hypoplasia of the maxilla Erectile abnormalities Skeletal dysplasia Pes planus Paraplegia Recurrent fractures Reduced bone mineral density Abnormality of color vision Decreased fertility Anterior hypopituitarism Abnormality of female internal genitalia Dyspareunia Cataract Tremor Low-set ears Edema Microphthalmia Midface retrusion Hernia Decreased serum estradiol Abnormality of eye movement Corneal opacity Muscular dystrophy Synophrys Gait disturbance Dysarthria Exercise-induced muscle fatigue Vesicoureteral reflux Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation Wide intermamillary distance Clinodactyly Agenesis of corpus callosum Abnormality of the nervous system Camptodactyly Anxiety Amenorrhea Ptosis Coarctation of aorta Myocardial infarction Depressivity Abnormality of the dentition Hypopituitarism Ectrodactyly Thromboembolism Prostate cancer Depressed nasal bridge Decreased circulating gonadotropin level Absent pubic hair Tall chin



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