Cryptorchidism, and Large fontanelles

Diseases related with Cryptorchidism and Large fontanelles

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

Top matches:

16P13.2 MICRODELETION SYNDROME Is also known as del(16)(p13.2)|monosomy 16p13.2

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 16P13.2 MICRODELETION SYNDROME

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

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Other less relevant matches:

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

PYCR1-RELATED DE BARSY SYNDROME Is also known as pycr1 deficiency|pyrroline-5-carboxylate reductase 1 deficiency|de barsy syndrome b

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYCR1-RELATED DE BARSY SYNDROME

Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSOSTOSIS; AFND

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

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

Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

Medium match ALG8-CDG

ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 7; MGORS7

Top 5 symptoms//phenotypes associated to Cryptorchidism and Large fontanelles

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Wide anterior fontanel Common - Between 50% and 80% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cryptorchidism and Large fontanelles. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micropenis Talipes equinovarus High palate Cleft palate Seizures Generalized hypotonia Delayed speech and language development Abnormal facial shape Macrocephaly Pulmonary hypoplasia Brachycephaly Craniosynostosis Long philtrum Growth delay Microcephaly Glaucoma Sparse hair Ventricular septal defect Myopia Ventriculomegaly Patellar hypoplasia Agenesis of corpus callosum Prominent forehead Low-set ears

Rare Symptoms - Less than 30% cases

Micrognathia Hypoplasia of the corpus callosum Hypopituitarism Preaxial polydactyly Encephalocele Broad nasal tip Wide nose Telecanthus Apraxia Preaxial foot polydactyly Motor delay Ptosis Hearing impairment Coronal craniosynostosis Thin vermilion border Pes planus Short stature Upper airway obstruction Bifid nasal tip Ambiguous genitalia Prominent nasal bridge Failure to thrive Cataract Hypohidrosis Joint laxity Wide mouth Strabismus Thin upper lip vermilion Bifid nose Patent ductus arteriosus Muscular hypotonia Diarrhea Choroid plexus cyst Retrocerebellar cyst Large sella turcica Parietal foramina Intrauterine growth retardation Scoliosis Polydactyly Narrow mouth Talipes Narrow chest Underdeveloped nasal alae Microtia Choanal atresia Gastroesophageal reflux Hypospadias Median cleft palate Widow's peak Anal atresia Syndactyly Midface retrusion Bilateral talipes equinovarus Inguinal hernia Hypoplasia of teeth Duodenal stenosis Prominent supraorbital ridges Decreased body weight Narrow iliac wings Aplasia/Hypoplasia of the patella Atrial septal defect Brittle hair Proptosis Delayed closure of the anterior fontanelle Decreased skull ossification Premature loss of teeth Coarse hair Anterior plagiocephaly Vesicoureteral reflux Capillary hemangioma Abnormal isoelectric focusing of serum transferrin 2-3 toe syndactyly Hyperpigmentation of the skin Hemangioma Pulmonic stenosis Optic atrophy Frontal bossing Anteverted nares Malar flattening Osteopenia Skeletal dysplasia Clitoral hypertrophy Clubbing Carious teeth Joint hyperflexibility Progressive microcephaly Smooth philtrum Abnormality of skin pigmentation Delayed eruption of teeth Hypoplasia of the maxilla Bifid uvula Bowing of the legs Prominent nose Esotropia Microdontia Primary hypothyroidism High iliac wings Abnormality of the renal tubule Sutural cataract Hypoplasia of the olfactory bulb Alopecia totalis Mild short stature Arnold-Chiari type I malformation Broad columella Ascites Thick nasal alae Anterior pituitary hypoplasia Decreased lacrimation Anal stenosis Dermoid cyst Aplasia/Hypoplasia of the tibia Midline central nervous system lipomas Calvarial skull defect Abnormality of the glabella Anemia Hepatomegaly Brachydactyly Short neck Vomiting Thrombocytopenia Hypothyroidism Dyspnea Camptodactyly Abnormal cardiac septum morphology Sagittal craniosynostosis Abnormal toenail morphology Posterior Y-sutural cataract Decreased liver function Hepatic failure Protein-losing enteropathy Hypoalbuminemia Posterior wedging of vertebral bodies Punctate cataract Tachypnea Thin eyebrow Forehead hyperpigmentation Abnormal intestine morphology Complete atrioventricular canal defect Depressed nasal bridge Alopecia Decreased fetal movement Hyperhidrosis Upslanted palpebral fissure Hyperkeratosis Cerebellar vermis hypoplasia Lymphedema Depressed nasal ridge Sparse and thin eyebrow Sparse eyelashes Median cleft lip Meningocele Cholestasis Short palpebral fissure Midline defect of the nose Type I lissencephaly Tall stature Ataxia Sensorineural hearing impairment Intellectual disability, severe Retinopathy Postaxial polydactyly Retinal dystrophy Dandy-Walker malformation Postaxial hand polydactyly Sloping forehead Congenital diaphragmatic hernia Oculomotor apraxia Velopharyngeal insufficiency Aplasia/Hypoplasia of the corpus callosum Triphalangeal thumb Aplasia/Hypoplasia of the cerebellum Prominent occiput Molar tooth sign on MRI Nephronophthisis Abnormality of the clavicle Flexion contracture Hernia Posteriorly rotated ears Osteoporosis Upper eyelid coloboma Asplenia Blepharophimosis Central sleep apnea Absent speech Clinodactyly of the 5th finger Autism Aggressive behavior Autistic behavior Trigonocephaly Hallux valgus Delayed cranial suture closure Speech apraxia Perseveration Premature adrenarche Short columella Cerebellar hypoplasia Short philtrum Hirsutism Generalized hirsutism Cutaneous syndactyly Overfolded helix Cupped ear Long fingers Prominent metopic ridge Short clavicles Broad neck Deeply set eye Hip dislocation Temperature instability Hypoplasia of penis Hyperreflexia Hyperactivity Respiratory failure High forehead Feeding difficulties in infancy Severe global developmental delay Malabsorption Gliosis Decreased testicular size Specific learning disability Pachygyria Vertical clivus Aganglionic megacolon Postnatal microcephaly Chronic diarrhea Lissencephaly Infantile spasms Exocrine pancreatic insufficiency Profound global developmental delay Hydranencephaly Long upper lip Duane anomaly Abnormality of temperature regulation Spasticity Frontal balding Blue sclerae Dermal translucency Fine hair Thin skin Elbow flexion contracture Narrow palpebral fissure Cutis laxa Pyloric stenosis Athetosis Congenital glaucoma Excessive wrinkled skin Narrow nasal ridge Abnormality of the skeletal system U-Shaped upper lip vermilion Short nose Cleft lip Cleft upper lip Heterotopia Oligodontia Bilateral cryptorchidism Overlapping toe Facial cleft Lipoma Broad foot Thick nail Urethral stricture


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Infertility, related diseases and genetic alterations Hydrocephalus and Osteopenia, related diseases and genetic alterations Depressed nasal bridge and Intellectual disability, moderate, related diseases and genetic alterations Visual impairment and Hyperhidrosis, related diseases and genetic alterations Ataxia and Retinal detachment, related diseases and genetic alterations Generalized hypotonia and Skeletal dysplasia, related diseases and genetic alterations