Cryptorchidism, and Bifid uvula

Diseases related with Cryptorchidism and Bifid uvula

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


Top matches:

High match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome

Related symptoms:

  • Cleft palate
  • Cataract
  • Cryptorchidism
  • Blindness
  • Microphthalmia


SOURCES: ORPHANET MENDELIAN

More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME

High match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

High match HYDROLETHALUS


Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

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Other less relevant matches:

High match PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7


Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

High match GORDON SYNDROME


Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

High match CRANIOLENTICULOSUTURAL DYSPLASIA


Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

High match VAN DER WOUDE SYNDROME 1; VWS1


Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

High match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

High match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Top 5 symptoms//phenotypes associated to Cryptorchidism and Bifid uvula

Symptoms // Phenotype % cases
Cleft palate Very Common - Between 80% and 100% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Bifid uvula. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Absent speech Short stature Intellectual disability Syndactyly Deeply set eye Toe syndactyly Thin vermilion border Generalized hypotonia Hearing impairment Low-set ears Hypoplasia of the corpus callosum Anteverted nares Hypertelorism Failure to thrive Delayed speech and language development Long philtrum Thin upper lip vermilion Smooth philtrum Pterygium Talipes equinovarus High palate Submucous cleft hard palate Scoliosis

Rare Symptoms - Less than 30% cases


Optic atrophy Muscular hypotonia of the trunk Pectus excavatum Short nose Kyphoscoliosis Myopia Microcephaly Wide mouth Camptodactyly Prominent nasal bridge Finger syndactyly Hyperpigmentation of the skin Difficulty walking Wide nasal bridge Short neck Growth delay Dandy-Walker malformation Feeding difficulties Ptosis Epicanthus Prominent forehead Facial asymmetry Wide intermamillary distance Abnormality of the pinna Protruding ear Short philtrum Neurological speech impairment Decreased muscle mass Webbed neck Wide nose Cataract Abnormality of skin pigmentation Hypoplastic labia majora Agenesis of corpus callosum Bifid scrotum Ankyloblepharon Popliteal pterygium Scrotal hypoplasia Abnormality of the genital system Cleft upper lip Lower lip pit Fibrous syngnathia Cleft lip Intercrural pterygium Anophthalmia Hydrocephalus Retrognathia Microphthalmia Cutaneous finger syndactyly Sensorineural hearing impairment Abnormality of the nail Ambiguous genitalia Abnormality of the ribs Split hand Coarse facial features Patent ductus arteriosus Obesity Hernia Choanal atresia Lip pit Ankyloglossia Generalized hirsutism Nonketotic hyperglycinemia Hypertonia Cardiomyopathy Ventricular septal defect Intrauterine growth retardation Brachydactyly Non-midline cleft lip Specific learning disability Cerebral palsy Micromelia Otitis media Delayed closure of the anterior fontanelle Prominent nose Esotropia Microdontia Large fontanelles Wide anterior fontanel Hemangioma Coarse hair Prominent supraorbital ridges Brittle hair Premature loss of teeth Capillary hemangioma Decreased skull ossification Hypoplasia of teeth Hypodontia Narrow iliac wings High iliac wings Sutural cataract Posterior Y-sutural cataract Posterior wedging of vertebral bodies Punctate cataract Forehead hyperpigmentation Respiratory distress Blindness Joint stiffness Hypertrophic cardiomyopathy Oral cleft Falls Umbilical hernia Failure to thrive in infancy Severe global developmental delay Nasal speech Recurrent fractures Postural instability Generalized myoclonic seizures High myopia Intellectual disability, profound Thick lower lip vermilion Broad-based gait Tall stature Dental crowding Narrow face Spontaneous abortion Sparse eyebrow Bulbous nose Disproportionate tall stature Long fingers Slender finger Epileptic spasms Slender build Hyperextensibility of the finger joints Small earlobe Long hallux Narrow palm Focal motor seizures Long palm High, narrow palate Unsteady gait Macroglossia Skull asymmetry Delayed myelination Ventricular hypertrophy Small nail Left ventricular hypertrophy Short chin Lissencephaly Delayed eruption of teeth Cutis marmorata Protruding tongue Severe failure to thrive Periorbital fullness Muscular hypotonia Arachnodactyly Cognitive impairment Dysarthria Gait disturbance Myoclonus Osteoporosis Brachycephaly Narrow mouth Mandibular prognathia Intellectual disability, moderate Pectus carinatum Synophrys Abnormality of movement Hypoplasia of the maxilla Pes planus Joint hyperflexibility Downturned corners of mouth Depressed nasal bridge Motor delay Intellectual disability, severe Dystonia Hypoplasia of the uterus Telecanthus Spina bifida occulta Overgrowth Small for gestational age Dementia Abnormality of the skeletal system Highly arched eyebrow Bilateral cleft lip and palate Round face Hypoplasia of the olfactory bulb Short palpebral fissure Absence seizures Microretrognathia Widely spaced teeth Long nose Partial agenesis of the corpus callosum Prominent metopic ridge Bruxism Prominent nasal tip Bilateral cleft lip Spasticity Abnormality of the midface Low-set, posteriorly rotated ears Postaxial hand polydactyly Laryngomalacia Absent septum pellucidum Anencephaly Abnormality of the respiratory system Arrhinencephaly Unilateral cleft lip Abnormality of the sense of smell Abnormality of the fallopian tube Tracheal atresia Gingival cleft Polyhydramnios Labial hypoplasia Abnormality of cardiovascular system morphology Strabismus Pyramidal skinfold extending from the base to the top of the nails Absent scrotum Abnormality of the scrotum Polymicrogyria Heterotopia 2-3 toe syndactyly Abnormality of neuronal migration Cortical dysplasia Hypoplasia of the vagina Long upper lip Absent nares Pulmonic stenosis Hypogonadism Hypoplasia of penis Distal arthrogryposis Thoracolumbar scoliosis Down-sloping shoulders Abnormality of the rib cage Decreased hip abduction Ulnar deviation of the hand or of fingers of the hand Camptodactyly of toe Iris coloboma Macrocephaly Frontal bossing Malar flattening Overlapping toe Midface retrusion Gastroesophageal reflux Osteopenia Skeletal dysplasia Premature birth Joint laxity Inguinal hernia Sparse hair Visual loss Narrow chest Carious teeth Bilateral talipes equinovarus Knee flexion contracture Single naris Ophthalmoplegia Failure of eruption of permanent teeth Intellectual disability, mild Abdominal wall muscle weakness Clinodactyly of the 5th finger Hyposmia Misalignment of teeth Hyperlordosis Retinopathy Camptodactyly of finger External genital hypoplasia Arthrogryposis multiplex congenita Abnormality of the foot Congenital hip dislocation Talipes Anosmia Single transverse palmar crease Triangular face Limitation of joint mobility Gynecomastia Amblyopia Lumbar hyperlordosis Interphalangeal joint contracture of finger Short phalanx of finger Abnormal vertebral morphology Asymmetry of the ears



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Arachnodactyly, related diseases and genetic alterations Macrocephaly and Thin upper lip vermilion, related diseases and genetic alterations Visual impairment and Postaxial polydactyly, related diseases and genetic alterations Ptosis and Microphthalmia, related diseases and genetic alterations

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