Cleft palate, and Infertility

Diseases related with Cleft palate and Infertility

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

Top matches:

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
  • Cryptorchidism
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16

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
  • Cryptorchidism
  • Delayed skeletal maturation


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8

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 7 WITH OR WITHOUT ANOSMIA; HH7 Is also known as ihh|hypogonadism, isolated hypogonadotropic|idiopathic hypogonadotropic hypogonadism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7

Other less relevant matches:

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

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

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
  • Abnormality of the dentition
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Low match CHIME SYNDROME

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

CHIME SYNDROME Is also known as coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|zunich-kaye syndrome|zunich neuroectodermal syndrome|neuroectodermal syndrome, zunich type|chime syndrome|gpibd5|pigl-cdg|neuroectodermal dysplasia,

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHIME SYNDROME

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

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Amenorrhea Common - Between 50% and 80% cases
Primary amenorrhea Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anosmia Decreased testicular size Hypogonadism Micropenis Cryptorchidism Ptosis Hypogonadotrophic hypogonadism Short stature High palate Depressed nasal bridge Muscular hypotonia Strabismus Delayed puberty Seizures Gynecomastia Delayed skeletal maturation Azoospermia Nystagmus

Rare Symptoms - Less than 30% cases

Ataxia Depressed nasal ridge Synophrys Global developmental delay Abnormal facial shape Hyposmia Prominent forehead Brachydactyly Feeding difficulties Epicanthus Wide nasal bridge Camptodactyly Narrow palpebral fissure Ichthyosis Pes cavus Holoprosencephaly Abnormality of the nervous system Increased circulating gonadotropin level Frontal bossing Gonadotropin deficiency Osteopenia Decreased fertility Generalized hypotonia Hypoplasia of the uterus Abnormality of the eye Bimanual synkinesia Abnormality of the dentition Dysarthria Congenital ptosis Short finger Epicanthus inversus Abnormal heart morphology Unilateral ptosis Female infertility Premature atrial contractions Abnormality of the breast Abnormal lacrimal duct morphology Hypertelorism Ventricular septal defect Cerebral atrophy Premature ovarian insufficiency Clinodactyly of the 5th finger Upslanted palpebral fissure Brachycephaly Cupped ear Microcephaly Abnormality of the hair Titubation Hyperkinesis Bilateral ptosis Hammertoe Spastic diplegia Secondary amenorrhea Gonadal dysgenesis Severe sensorineural hearing impairment Retinal atrophy Amelogenesis imperfecta Decreased serum testosterone level Progressive peripheral neuropathy Congenital diaphragmatic hernia Limited extraocular movements Internuclear ophthalmoplegia Myopia Microphthalmia Hernia Telecanthus Blepharophimosis Hypermetropia Microcornea Narrow forehead Cerebral cortical atrophy Short palm Hyperkeratosis Hypoplastic nipples Palmoplantar hyperkeratosis Recurrent skin infections Growth abnormality Brittle hair Overfolded helix Erythroderma Large hands Abnormality of dental morphology Keratitis Large for gestational age Transposition of the great arteries Increased number of teeth Acute lymphoblastic leukemia Widely spaced teeth Acute leukemia Long foot Retinal coloboma Peripheral pulmonary artery stenosis Aplasia/Hypoplasia of the nipples Ureteropelvic junction obstruction Aplastic clavicle Duplicated collecting system Clubbing of toes Aplasia/Hypoplasia of the phalanges of the hand Pulmonary valve atresia Violent behavior Aplasia/Hypoplasia of the phalanges of the toes Abnormality of the outer ear Abnormal dermatoglyphics Autism Thick vermilion border Conductive hearing impairment Hydronephrosis Abnormality of the kidney Erythema Wide mouth Sparse hair Coloboma Short philtrum Leukemia Corneal opacity Hip dislocation Hypotrichosis Polyneuropathy Short foot Osteolysis Hypodontia Bifid uvula Ectodermal dysplasia Webbed neck Microdontia Tetralogy of Fallot Thick lower lip vermilion Fine hair Broad-based gait Tall stature Abnormality of epiphysis morphology Joint contracture of the hand Skin ulcer Sensorimotor neuropathy Moderate hearing impairment Sensory neuropathy Severe postnatal growth retardation Hypotension Aspiration Hoarse voice Optic nerve hypoplasia Adrenal insufficiency Delayed cranial suture closure Hypoplastic left heart Abnormality of digit Prolonged neonatal jaundice Absent septum pellucidum Hypopituitarism Aspiration pneumonia Macroglossia Short attention span Concave nasal ridge Pituitary hypothyroidism Absence of secondary sex characteristics Anterior pituitary hypoplasia Median cleft lip and palate Decreased circulating ACTH level Ectopic posterior pituitary Septo-optic dysplasia Aplasia/Hypoplasia of the breasts Pituitary dwarfism Growth hormone deficiency Ascites Moon facies Short nose Breast aplasia Abnormality of eye movement Bilateral cryptorchidism Sparse axillary hair Sparse pubic hair Microphallus Growth delay Fatigue Anteverted nares Edema Intellectual disability, severe Malar flattening Pulmonic stenosis Midface retrusion Patent ductus arteriosus Constipation Pneumonia Agenesis of corpus callosum Polydactyly Hypothyroidism Polyhydramnios Jaundice Hypoglycemia Deeply set eye Severe global developmental delay Abnormal prolactin level Decreased cervical spine mobility Peripheral axonal neuropathy Peripheral neuropathy Progressive sensorineural hearing impairment Male infertility Anemia of inadequate production Congenital hypoplastic anemia Abnormal spermatogenesis Reduced sperm motility Prominent eyelashes Scoliosis Spasticity Cognitive impairment Motor delay Talipes equinovarus Prominent nasal bridge Short neck Cerebellar atrophy Intellectual disability, mild Areflexia Hyporeflexia Cerebellar hypoplasia Rod-cone dystrophy Osteoporosis Gait ataxia Mental deterioration Ophthalmoplegia Dysmetria Bilateral sensorineural hearing impairment Anemia Abnormality of secondary sexual hair Paraplegia Osteoporosis of vertebrae Anterior pituitary agenesis Ectopic anterior pituitary gland Muscle weakness Visual impairment Tremor Gait disturbance Abnormality of cardiovascular system morphology Obesity Skeletal dysplasia Pes planus Recurrent fractures Low-set ears Renal agenesis Hypoplasia of penis Reduced bone mineral density Reduced number of teeth Abnormality of the voice Abnormality of color vision Anterior hypopituitarism Abnormality of female internal genitalia Breast hypoplasia Dyspareunia Erectile abnormalities Hypothalamic gonadotropin-releasing hormone deficiency Low-set nipples


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