Cryptorchidism, and High palate

Diseases related with Cryptorchidism and High palate

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


Top matches:

High match HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6


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
  • High palate


SOURCES: OMIM MESH MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6

High match SECKEL SYNDROME 5; SCKL5


Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 5; SCKL5

High 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

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Other less relevant matches:

High match MCKUSICK-KAUFMAN SYNDROME


McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

High match CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME


CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

High match ALAZAMI-YUAN SYNDROME; ALYUS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

High match SWEENEY-COX SYNDROME; SWCOS


Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

High match PONTOCEREBELLAR HYPOPLASIA TYPE 10


Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.

PONTOCEREBELLAR HYPOPLASIA TYPE 10 Is also known as pch10|clp1-related pontocerebellar hypoplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 10

Top 5 symptoms//phenotypes associated to Cryptorchidism and High palate

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Generalized hypotonia Feeding difficulties Strabismus Short stature Hearing impairment Sensorineural hearing impairment Micropenis Micrognathia Underdeveloped nasal alae Seizures Prominent nasal bridge

Rare Symptoms - Less than 30% cases


Failure to thrive Delayed myelination Anal atresia Autism Absent speech Visual impairment Nystagmus Hirsutism Scoliosis Narrow chest Long eyelashes Motor delay Hyperactivity Neonatal hypotonia Short philtrum Poor head control Wide nasal bridge Hypotelorism Low-set ears Hypertelorism Short columella Synophrys Thin upper lip vermilion Narrow mouth Gastroesophageal reflux Ventricular septal defect Highly arched eyebrow Delayed skeletal maturation Delayed puberty Hypogonadism Cleft lip Hypogonadotrophic hypogonadism Anosmia Hyposmia Retrognathia Overfolded helix Talipes Choanal atresia Wide anterior fontanel Generalized hirsutism Cutaneous syndactyly Bilateral talipes equinovarus Sensorimotor neuropathy Progressive microcephaly Cupped ear Cortical gyral simplification Long fingers Prominent metopic ridge Short clavicles Broad neck Esotropia Delayed gross motor development Midface retrusion Microtia Unilateral cryptorchidism Wide intermamillary distance Dental crowding Abnormality of the cerebral cortex Delayed fine motor development Low anterior hairline Broad hallux Abnormality of brainstem morphology Curly eyelashes Craniosynostosis Poor eye contact Long palpebral fissure Progressive spasticity Talipes equinovarus Syndactyly Abnormality of the cerebral white matter Cerebellar hypoplasia Brachycephaly Brain atrophy Growth delay Asplenia Gait ataxia Open mouth Self-injurious behavior Chronic constipation Lumbar scoliosis Asymmetry of the ears Cataract Myopia Intrauterine growth retardation Hypospadias Astigmatism Hyperreflexia Rhizomelia Coxa valga Accelerated skeletal maturation Scrotal hypoplasia Metaphyseal widening 2-3 toe syndactyly Scaphocephaly Obstructive sleep apnea Broad femoral neck Peripheral neuropathy Optic atrophy Spasticity Macrocephaly Irritability Proptosis Velopharyngeal insufficiency Median cleft palate Upper eyelid coloboma Cerebral cortical atrophy Encephalopathy Short nose Depressed nasal bridge Anteverted nares Ventriculomegaly Hypertonia Constipation Hypoplasia of the corpus callosum Deeply set eye Anxiety Developmental regression Autistic behavior Pectus carinatum Downturned corners of mouth Widow's peak Neck muscle weakness Prominent nose Testicular atrophy Gynecomastia Holoprosencephaly Azoospermia Unilateral renal agenesis Bilateral cryptorchidism Anodontia Sparse pubic hair Abnormal renal morphology Microphallus Bimanual synkinesia Renal agenesis Bilateral renal agenesis Eunuchoid habitus Alobar holoprosencephaly Decreased circulating luteinizing hormone level Olfactory lobe agenesis Hypothalamic gonadotropin-releasing hormone deficiency Decreased circulating follicle stimulating hormone level Leydig cell insensitivity to gonadotropin Total anosmia Brachydactyly Decreased testicular size Ichthyosis Patent ductus arteriosus Oligodontia Primary amenorrhea Small pituitary gland Downslanted palpebral fissures Clinodactyly of the 5th finger Severe short stature Pes planus Blepharophimosis Hypodontia Convex nasal ridge Sloping forehead Clitoral hypertrophy Oral cleft Proportionate short stature Abnormal cortical gyration 11 pairs of ribs Selective tooth agenesis Large beaked nose Ataxia Pes cavus Abnormality of the eye Abnormality of eye movement Facial asymmetry Atrial septal defect Hydronephrosis Single transverse palmar crease Weak cry Severe muscular hypotonia Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Congenital contracture Congenital muscular dystrophy Increased variability in muscle fiber diameter Multiple joint contractures Mildly elevated creatine phosphokinase Spinal rigidity Centrally nucleated skeletal muscle fibers Limb muscle weakness Overweight Follicular hyperkeratosis Generalized joint laxity Pes valgus Minicore myopathy Gastrostomy tube feeding in infancy Abnormal elasticity of skin Long philtrum Poor speech Thick eyebrow Dry skin Muscular dystrophy Finger syndactyly Urogenital sinus anomaly Tetralogy of Fallot Postaxial hand polydactyly Aganglionic megacolon Multicystic kidney dysplasia Renal hypoplasia/aplasia Abnormality of the metacarpal bones Hypoplastic left heart Tarsal synostosis Postaxial foot polydactyly Ectopic anus Urethral stricture Joint laxity Hydrometrocolpos Glandular hypospadias Muscle weakness Flexion contracture Respiratory insufficiency Myopathy Pectus excavatum Recurrent respiratory infections Respiratory failure Hyperkeratosis Visual fixation instability



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