Cryptorchidism, and Lymphedema

Diseases related with Cryptorchidism and Lymphedema

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


Top matches:

High match SCHNECKENBECKEN DYSPLASIA


Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

High match MCKUSICK-KAUFMAN SYNDROME; MKKS


McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome|kaufman-mckusick syndrome|hmcs|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

Related symptoms:

  • Cryptorchidism
  • Abnormality of the skeletal system
  • Respiratory distress
  • Edema
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME; MKKS

High 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

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Other less relevant matches:

High match MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1


Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

High match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

Medium match MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME


Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Medium match WEAVER SYNDROME; WVS


Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Medium match SOTOS SYNDROME 1; SOTOS1


SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Medium match FRONTONASAL DYSPLASIA 1; FND1


The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Medium match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Top 5 symptoms//phenotypes associated to Cryptorchidism and Lymphedema

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Ptosis Seizures Global developmental delay Long philtrum Macrocephaly Camptodactyly Short stature Flexion contracture Low-set ears Brachydactyly Short neck Behavioral abnormality Joint laxity Joint hypermobility Inguinal hernia Prominent forehead Epicanthus Clinodactyly Webbed neck Delayed speech and language development Pectus excavatum Depressed nasal bridge Cleft palate Optic atrophy Frontal bossing Atrial septal defect Failure to thrive Ascites Ventricular septal defect Talipes equinovarus Thrombocytopenia Abnormality of cardiovascular system morphology Patent ductus arteriosus Abnormality of the skeletal system Pulmonic stenosis Anteverted nares Wide nasal bridge Fine hair Abnormal heart morphology Radial deviation of finger Leukemia Hypermetropia Accelerated skeletal maturation Broad philtrum Hernia Midface retrusion Edema Nystagmus Macrotia Microcephaly Hearing impairment

Rare Symptoms - Less than 30% cases


Abnormal cardiac septum morphology Pes planus Umbilical hernia Renal agenesis Round face Alopecia Hypoplasia of the maxilla Abnormal intestine morphology Dandy-Walker malformation Tachypnea Hypoalbuminemia Motor delay Decreased fetal movement Protein-losing enteropathy Abnormality of the genital system Highly arched eyebrow Intellectual disability, mild Hyperhidrosis Ventriculomegaly Abnormal bleeding Conductive hearing impairment Pectus carinatum Partial agenesis of the corpus callosum Upslanted palpebral fissure Heterotopia Abnormality of the sternum Pes cavus Deep philtrum Dilatation Kyphosis Hypertonia Myopathy Large earlobe Widow's peak High palate Pain Hypertension Posteriorly rotated ears Hypodontia Hypothyroidism Broad forehead Tetralogy of Fallot Amenorrhea Postaxial polydactyly Pulmonary hypoplasia Hydronephrosis Micropenis Polydactyly Obesity Syndactyly Respiratory distress Mandibular prognathia Neonatal hypotonia Sparse hair Talipes Teratoma Lymphoma Overgrowth Hydrocele testis Tall stature Joint contracture of the hand Pointed chin Short ribs Cutis laxa Large hands Platyspondyly Dolichocephaly Acute lymphoblastic leukemia Polyhydramnios Malar flattening Postaxial hand polydactyly Hypospadias Muscular hypotonia Hepatomegaly Proximal placement of thumb Growth delay Cataract Sacrococcygeal teratoma Anemia Neoplasm Prominent fingertip pads Intrauterine growth retardation Abnormal vertebral morphology Hydrops fetalis Overlapping toe Oxycephaly Abnormal glucose tolerance Overbite Hamartomatous polyposis Periventricular leukomalacia Cavum septum pellucidum Genu valgum Respiratory tract infection Dilation of lateral ventricles Broad face Abnormality of the kidney Dysharmonic bone age Dimple chin Diastasis recti Hyperplasia of the maxilla Hypoplastic iliac wing Expressive language delay Hyperreflexia Advanced eruption of teeth Gray matter heterotopias Down-sloping shoulders Prolactin excess Small cell lung carcinoma Carcinoma Abnormality of the cerebral ventricles Inverted nipples Coarse facial features Flared humeral metaphysis Enlarged cisterna magna Abnormally low-pitched voice High, narrow palate Thin nail Abnormal dermatoglyphics Narrow palate Narrow face Vertebral wedging Short fourth metatarsal Hypoplasia of dental enamel Redundant skin Clumsiness Small nail Apraxia Sloping forehead Otitis media Vesicoureteral reflux Reduced number of teeth Jaundice Long foot Poor fine motor coordination Galactorrhea High anterior hairline Poor coordination Neuroblastoma Prolonged neonatal jaundice Limited knee extension Flared femoral metaphysis Horizontal eyebrow Calcaneovalgus deformity Agenesis of permanent teeth Lumbar kyphosis Thoracolumbar kyphosis Nephroblastoma Deep-set nails Precocious puberty Aggressive behavior Adrenal insufficiency Hydrocephalus Esotropia Vasculitis Bilateral single transverse palmar creases Aortic valve stenosis Cafe-au-lait spot Hyperpigmentation of the skin Mitral regurgitation Low posterior hairline Epistaxis Cyanosis Hip dysplasia Wide intermamillary distance Triangular face Bicuspid aortic valve Thick vermilion border Bruising susceptibility Falls Astigmatism Abnormality of the foot Postnatal growth retardation Feeding difficulties in infancy Low-set, posteriorly rotated ears Hepatosplenomegaly High forehead Gastroesophageal reflux Splenomegaly Torticollis Poor suck Gait disturbance Hypochromic microcytic anemia Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Chylothorax Abnormality of the spleen Cholelithiasis B-cell lymphoma Short attention span Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Overfolded helix Cubitus valgus Abnormality of the thorax Pleural effusion Bilateral ptosis Failure to thrive in infancy Cardiomyopathy Feeding difficulties Microphthalmia Underdeveloped nasal alae Diabetes insipidus Anophthalmia Preaxial polydactyly Easy fatigability Scrotal hypoplasia Preauricular skin tag Long eyelashes Abnormality of the face Encephalocele Oligohydramnios Decreased testicular size Growth hormone deficiency Broad nasal tip Multiple lipomas Postural instability Wide nose Oral cleft Hypotrichosis Coloboma Craniosynostosis Intellectual disability, moderate Cleft lip Telecanthus Brachycephaly Hypogonadism Agenesis of corpus callosum Absent septum pellucidum Occipital encephalocele Cognitive impairment Parietal foramina Anterior basal encephalocele Midline facial cleft Pectoral muscle hypoplasia/aplasia Frontal cutaneous lipoma Lipoma of corpus callosum Cranium bifidum occultum Morning glory anomaly Scleral staphyloma Widely-spaced maxillary central incisors Hypoplastic frontal sinuses Absent tibia Median cleft palate Broad columella Facial cleft Bifid nose Agenesis of cerebellar vermis Alopecia totalis Bifid nasal tip Conical tooth Preaxial foot polydactyly Calvarial skull defect Short columella Coronal craniosynostosis Meningocele Lipoma Median cleft lip Secondary amenorrhea Downturned corners of mouth Limited elbow extension Primary hypothyroidism Rigidity Kyphoscoliosis Acidosis Elevated serum creatine phosphokinase Arrhythmia Renal insufficiency Fever Muscle weakness Abnormal isoelectric focusing of serum transferrin Abnormality of the renal tubule Myalgia Decreased liver function Large fontanelles Cholestasis Hepatic failure Dyspnea Diarrhea Vomiting Hydrocolpos Pelvic mass Proximal muscle weakness Hyperlordosis Prominent scrotal raphe Myotonia Malignant hyperthermia Myoglobinuria Scaphocephaly Acute kidney injury Rhabdomyolysis Hyperkalemia Myopathic facies Abnormality of the coagulation cascade Ventricular fibrillation Ventricular arrhythmia Stroke Shock Lumbar hyperlordosis Hypotension Muscle cramps Metabolic acidosis Tachycardia Lactic acidosis Limb muscle weakness Arthrogryposis multiplex congenita Muscular dystrophy Vesicovaginal fistula Mesoaxial hand polydactyly Low hanging columella Fibular hypoplasia Anterior rib cupping Hypoplastic vertebral bodies Vertebral hypoplasia Lateral clavicle hook Diaphyseal thickening Hypoplastic ilia Ovoid vertebral bodies Flat acetabular roof Hypoplastic scapulae Hypoplastic toenails Severe hydrops fetalis Metaphyseal irregularity Disproportionate short-limb short stature Abnormality of the fingernails Spontaneous abortion Abnormal form of the vertebral bodies Abnormality of the metaphysis Micromelia Narrow chest Skeletal dysplasia Severe short stature Advanced ossification of carpal bones Dumbbell-shaped long bone Transverse vaginal septum Tracheoesophageal fistula Hydrometrocolpos Penoscrotal hypospadias Chordee Vaginal atresia Rectovaginal fistula Nonimmune hydrops fetalis Edema of the lower limbs Esophageal atresia Hydroureter Polycystic kidney dysplasia Unossified vertebral bodies Congenital hip dislocation Aganglionic megacolon Choanal atresia Primary amenorrhea Abdominal distention Anal atresia Rod-cone dystrophy Snail-like ilia Increased fibular diameter Advanced tarsal ossification Thoracic kyphosis Hyperphosphatemia Bilateral talipes equinovarus Exotropia Retinal dysplasia Congenital nystagmus Abnormality of the periventricular white matter Pericardial effusion Unilateral renal agenesis Sparse eyebrow Tented upper lip vermilion Widely spaced teeth Progressive microcephaly Bilateral sensorineural hearing impairment Anomalous pulmonary venous return Narrow forehead Dental malocclusion Nevus Tapered finger Retinal detachment Bulbous nose Smooth philtrum Synophrys Short philtrum Mild microcephaly Total anomalous pulmonary venous return Thin upper lip vermilion Hypertrichosis Large for gestational age Metatarsus adductus Flat occiput Back pain Slurred speech Coxa valga Hoarse voice Broad thumb Pachygyria Nail dysplasia Increased mean platelet volume Abnormality of the pinna Retrognathia Delayed skeletal maturation Dysarthria Spasticity Micrognathia Eversion of lateral third of lower eyelids Flared nostrils Intestinal lymphangiectasia Macrothrombocytopenia Wide mouth Reduced visual acuity Breech presentation Attention deficit hyperactivity disorder Increased intracranial pressure Generalized-onset seizure Single transverse palmar crease Short foot Short palm Polymicrogyria Cirrhosis Cleft upper lip Delayed puberty Abdominal pain Interstitial pulmonary abnormality Hyperactivity Depressivity Short nose Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Congenital ptosis Diaphragmatic eventration Respiratory arrest Severe lactic acidosis Mild short stature Broad palm Cerebral cortical atrophy Curved linear dimple below the lower lip Cerebellar hypoplasia Absent speech Recurrent infections Immunodeficiency Cerebellar atrophy Hypoplasia of the corpus callosum Sensorineural hearing impairment Ataxia Cervical spine hypermobility Increased upper to lower segment ratio Macrocytic anemia Prominent umbilicus Frontoparietal polymicrogyria Osteochondritis Dissecans Hyperextensibility of the finger joints Volvulus Short 5th finger Genu recurvatum Broad foot Hypoplasia of the odontoid process Shawl scrotum Abnormality of the subarachnoid space



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