Cryptorchidism, and Dysphagia

Diseases related with Cryptorchidism and Dysphagia

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


Top matches:

Medium match NEUROFIBROMATOSIS-NOONAN SYNDROME


Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

NEUROFIBROMATOSIS-NOONAN SYNDROME Is also known as nfns|neurofibromatosis type 1-noonan syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME

Medium match AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY


Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant|ad-cnm|myopathy, centronuclear, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

Medium match HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS


Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME


Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

Medium match MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD


Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Medium match OPITZ GBBB SYNDROME, TYPE I; GBBB1


The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

Medium match ATELOSTEOGENESIS TYPE I


Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

Medium match LEPRECHAUNISM


Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Medium match 16Q24.3 MICRODELETION SYNDROME


16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

Medium match NEMALINE MYOPATHY 2; NEM2


Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

Top 5 symptoms//phenotypes associated to Cryptorchidism and Dysphagia

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Generalized hypotonia High palate Myopathy Decreased fetal movement Anteverted nares Gastroesophageal reflux Generalized muscle weakness Long philtrum Facial palsy Respiratory insufficiency due to muscle weakness Wide mouth Smooth philtrum Respiratory insufficiency Proximal muscle weakness Feeding difficulties Short stature Areflexia Skeletal muscle atrophy Flexion contracture Microcephaly Ptosis Muscle weakness Neonatal hypotonia Muscular hypotonia of the trunk Delayed speech and language development Long face Seizures

Rare Symptoms - Less than 30% cases


Brachycephaly Hypodontia Astigmatism Developmental regression Osteopenia Triangular face Stereotypy Upslanted palpebral fissure Inguinal hernia Pectus excavatum Syndactyly Poor head control Myopia Wide nasal bridge Myopathic facies Hearing impairment Sensorineural hearing impairment Mitral regurgitation Hip dysplasia Waddling gait Preauricular skin tag Cleft palate Recurrent respiratory infections Autism Depressed nasal bridge Macrotia Autistic behavior Optic nerve hypoplasia Aspiration Large fontanelles Pneumonia Patent ductus arteriosus Hypospadias Hernia Ventricular septal defect Frontal bossing Postprandial hyperglycemia Growth delay Nemaline bodies Thick vermilion border Bulbar palsy Multiple joint contractures Glucose intolerance Hyperglycemia Hyperinsulinemia Infantile muscular hypotonia Insulin resistance Hirsutism Limb muscle weakness Dilated cardiomyopathy Muscular dystrophy Failure to thrive Thin upper lip vermilion Micrognathia High forehead Frequent falls Ataxia Type 1 muscle fiber predominance Centrally nucleated skeletal muscle fibers Mildly elevated creatine phosphokinase Micropenis Progressive muscle weakness Falls Abnormal facial shape Ophthalmoplegia Polyhydramnios Motor delay Pain Webbed neck Low-set, posteriorly rotated ears Strabismus EMG: myopathic abnormalities Recurrent infections Prominent forehead Epicanthus Dysarthria Posteriorly rotated ears Fetal akinesia sequence Slender build Abnormality of the rib cage Hyperkeratosis Neck flexor weakness Delayed skeletal maturation Severe short stature Intrauterine growth retardation Cognitive impairment Hostility Infantile axial hypotonia Proptosis EMG: neuropathic changes Thrombocytopenia Bruxism Kyphosis Cystic hygroma Umbilical hernia Hypoglycemia Feeding difficulties in infancy Spinal rigidity Postnatal growth retardation Small for gestational age Hypoplasia of the corpus callosum High, narrow palate Pericardial effusion Protruding ear Rocker bottom foot Central hypoventilation Facial hypotonia Chronic constipation Chorea Depressivity Constipation Mitochondrial depletion Narrow mouth Intellectual disability, moderate Transient myeloproliferative syndrome Hypothyroidism Rigidity Anxiety Respiratory tract infection Severe hydrops fetalis Severe global developmental delay Poor speech Neurodegeneration Intellectual disability, profound Ventriculomegaly Aganglionic megacolon Lower limb spasticity Severe muscular hypotonia Drooling Tented upper lip vermilion Calf muscle pseudohypertrophy Premature ovarian insufficiency Myotonia Progressive spasticity Poor eye contact Hypoventilation Multiple pterygia Hand clenching Central hypotonia Akinesia Elfin facies Highly arched eyebrow Biparietal narrowing Hearing abnormality Nystagmus Thickened nuchal skin fold Hyporeflexia Edema Asymmetry of the breasts Talipes equinovarus Periventricular gray matter heterotopia Single median maxillary incisor Severe failure to thrive Colpocephaly Increased mean corpuscular volume Abnormal hair pattern Long foot Proximal placement of thumb Severe intrauterine growth retardation Chronic otitis media Pointed chin Absent speech Prominent nipples Concave nasal ridge Small face Ovarian cyst Fasting hypoglycemia Long penis Thick nasal alae Abnormality of the abdominal wall Adipose tissue loss Pancreatic islet-cell hyperplasia Absence of subcutaneous fat Apnea Abnormality of the eye Female pseudohermaphroditism Gynecomastia Nail dysplasia Congenital contracture Type II diabetes mellitus Epidermal acanthosis Thick lower lip vermilion Pterygium Adducted thumb Hypertrichosis Visual impairment Foot dorsiflexor weakness Hydrops fetalis Cholestasis Gingival overgrowth Hepatic fibrosis Inability to walk Lipoatrophy Talipes Arthrogryposis multiplex congenita Distal muscle weakness Generalized hirsutism Acanthosis nigricans Cutis laxa Cachexia Precocious puberty Clitoral hypertrophy Large hands Decreased muscle mass Hypermelanotic macule Hyperlordosis Reduced subcutaneous adipose tissue Abdominal distention Type 1 fibers relatively smaller than type 2 fibers Abnormality of metabolism/homeostasis Vesicoureteral reflux Proximal muscle weakness in upper limbs Neonatal asphyxia Macrocephaly at birth Abnormality of the foot musculature Sleepy facial expression Cerebellar atrophy Cerebellar hypoplasia Deeply set eye Prominent nasal bridge Neurological speech impairment Synophrys Dysmetria Downturned corners of mouth Broad nasal tip Delayed myelination Proximal muscle weakness in lower limbs Oval face Craniosynostosis Clinodactyly Atrial septal defect Broad chin Overfolding of the superior helices Horizontal eyebrow Pain insensitivity Apraxia Inverted nipples Delayed ability to walk Overfolded helix Deep philtrum Abnormality of the genitourinary system Short chin Cavernous hemangioma Restrictive deficit on pulmonary function testing Dental malocclusion Urinary incontinence Hypertrophic cardiomyopathy Pulmonic stenosis Specific learning disability Abnormality of the face Abnormality of the thorax Prolonged bleeding time Multiple cafe-au-lait spots Abnormality of the helix Abnormality of the lymphatic system Abdominal wall muscle weakness Pes cavus Difficulty walking Myalgia Peripheral axonal neuropathy Open mouth Exercise-induced myalgia Large for gestational age Areflexia of lower limbs Malignant hyperthermia Drowsiness Thin ribs Muscle fibrillation Generalized amyotrophy Calf muscle hypertrophy Spontaneous abortion Skeletal muscle hypertrophy Ophthalmoparesis Pyloric stenosis Easy fatigability Delayed gross motor development External ophthalmoplegia Tapered finger High myopia Midface retrusion Volvulus Intestinal malrotation Ambiguous genitalia Congenital diaphragmatic hernia Recurrent urinary tract infections Abnormality of the voice Increased number of teeth Prominent metopic ridge Double outlet right ventricle Bilateral cleft lip Aspiration pneumonia Bilateral cleft lip and palate Hydrocele testis Widow's peak Pulmonary artery atresia Abnormality of the pharynx Cleft upper lip Posterior pharyngeal cleft Malar flattening Short nose Abnormality of the dentition Intellectual disability, severe Macrocephaly Spasticity Osteoma Chylothorax Exstrophy Recurrent aspiration pneumonia Bladder exstrophy Intestinal lymphangiectasia Abnormality of the nasopharynx Right aortic arch Oral cleft Anal atresia Low posterior hairline Lumbar hyperlordosis Hypoplasia of dental enamel Microcytic anemia Hypoparathyroidism Down-sloping shoulders Sparse lateral eyebrow Moderate global developmental delay Long toe Hypochromic anemia Short 2nd finger Cardiomyopathy Diabetes mellitus Respiratory failure Joint laxity Lower limb muscle weakness Atrial fibrillation Pectus carinatum Abnormal glucose tolerance Cleft lip Telecanthus Agenesis of corpus callosum Abnormal heart morphology Abnormality of cardiovascular system morphology Spinal deformities Limb joint contracture Clumsiness Insulin-resistant diabetes mellitus Difficulty running Weak cry Glycosuria Congenital hip dislocation Narrow face Late-onset distal muscle weakness



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Short foot, related diseases and genetic alterations Epicanthus and Gait disturbance, related diseases and genetic alterations Ptosis and Proteinuria, related diseases and genetic alterations Immunodeficiency and Cerebellar hypoplasia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more