Cryptorchidism, and Short palm

Diseases related with Cryptorchidism and Short palm

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


Top matches:

High match MENTAL RETARDATION, X-LINKED 103; MRX103


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cryptorchidism
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 103; MRX103

High match AUTOSOMAL DOMINANT OMODYSPLASIA


Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, shortened first metacarpal, and craniofacial dysmorphism. See also OMOD1 (OMIM ).

AUTOSOMAL DOMINANT OMODYSPLASIA Is also known as omodysplasia, autosomal dominant

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cryptorchidism
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT OMODYSPLASIA

High match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

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Other less relevant matches:

High match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

High match PIERPONT SYNDROME


Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.

PIERPONT SYNDROME Is also known as plantar lipomatosis, unusual facies, and developmental delay|plantar lipomatosis-facial dysmorphism-developmental delay syndrome|plantar lipomatosis-unusual facies-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PIERPONT SYNDROME

High match OSTEOGLOSPHONIC DYSPLASIA


Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOSPHONIC DYSPLASIA Is also known as osteoglophonic dwarfism

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGLOSPHONIC DYSPLASIA

High match SANJAD-SAKATI SYNDROME


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

High match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

High match 17Q12 MICRODELETION SYNDROME


17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

High match 2Q23.1 MICRODELETION SYNDROME


The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Short palm

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short foot Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Malar flattening Microcephaly Frontal bossing Depressed nasal bridge Generalized hypotonia Hypertelorism Micropenis Short neck Strabismus Low-set ears Protruding ear Downslanted palpebral fissures High palate Long philtrum Short nose Anteverted nares Failure to thrive Absent speech Everted lower lip vermilion Small hand Microphthalmia Midface retrusion Posteriorly rotated ears Pectus excavatum Upslanted palpebral fissure Low-set, posteriorly rotated ears Hypoplasia of the maxilla Thin upper lip vermilion Abnormal facial shape Behavioral abnormality Deeply set eye Epicanthus Hearing impairment Mandibular prognathia Hypospadias Broad foot Autism Scoliosis High forehead Hypoplasia of penis Feeding difficulties Hypermetropia Broad palm Severe short stature

Rare Symptoms - Less than 30% cases


Widely spaced teeth Infantile muscular hypotonia Abnormality of the dentition Growth delay Cognitive impairment Inguinal hernia High anterior hairline Thin vermilion border Camptodactyly of finger Brachycephaly Facial asymmetry Broad forehead External ear malformation Smooth philtrum Muscular hypotonia of the trunk Shawl scrotum Coarse facial features Retrognathia Macrotia Ptosis Clinodactyly of the 5th finger Ureterocele Hypoplasia of the corpus callosum Rhizomelia Disproportionate short-limb short stature Intellectual disability, severe Clinodactyly Aggressive behavior Delayed skeletal maturation Focal impaired awareness seizure Language impairment Ventriculomegaly Cleft palate Myopia Motor delay Wide nasal bridge Wide mouth Microcornea Postnatal growth retardation Wide intermamillary distance Brachydactyly Astigmatism Pes planus Highly arched eyebrow Microtia Tapered finger Sparse and thin eyebrow Diabetes mellitus Oligohydramnios Bilateral sensorineural hearing impairment Hypertrichosis Large fontanelles Hydronephrosis Renal hypoplasia Small nail Elevated hepatic transaminase Nail dystrophy Stage 5 chronic kidney disease Recurrent urinary tract infections Macrocephaly Cerebral atrophy Decreased body weight Talipes equinovarus Babinski sign Intellectual disability, moderate Prominent nasal bridge Spastic paraplegia Poor speech Paraplegia Hyperreflexia Falls Short distal phalanx of finger High, narrow palate Decreased testicular size Interphalangeal joint contracture of finger Large hands Renal insufficiency Lower limb hyperreflexia Progressive spastic paraplegia Multiple cafe-au-lait spots Restlessness Facial hypotonia Distal lower limb amyotrophy Shuffling gait Furrowed tongue Diastema Alopecia areata Lower limb hypertonia Low frustration tolerance Small forehead Talipes calcaneovarus Intellectual disability, progressive Ataxia Horizontal nystagmus Stereotypy Synophrys Bulbous nose Thick eyebrow Downturned corners of mouth Sleep disturbance Prominent nose Esotropia Focal-onset seizure Febrile seizures Hip dysplasia Epileptic encephalopathy Open mouth Dental crowding Low anterior hairline Feeding difficulties in infancy Generalized hirsutism Finger clinodactyly Short chin Absence seizures Sandal gap Tented upper lip vermilion Self-injurious behavior Cupped ear Polyphagia Short attention span Macrodontia Hemifacial hypoplasia Paroxysmal bursts of laughter Autistic behavior EEG abnormality Multicystic kidney dysplasia Abnormality of upper lip Renal hypoplasia/aplasia Schizophrenia Unilateral renal agenesis Long fingers Upper limb undergrowth Ovarian cyst Maturity-onset diabetes of the young Aplasia of the uterus Long toe Hyperechogenic kidneys Urethral stenosis Subcortical cerebral atrophy Hyperconvex nail Hypoplasia of the bladder Gastroesophageal reflux Aplasia of the vagina Ureteral atresia Pica Pancreatic aplasia Unicornuate uterus Patchy osteosclerosis Muscular hypotonia Visual impairment Fever Vomiting Encephalopathy Constipation Hyperactivity Gait ataxia Spasticity Abnormality of the clavicle Congenital hypoparathyroidism Nystagmus Joint hyperflexibility Talipes Cleft upper lip Oral cleft Single transverse palmar crease Delayed eruption of teeth Round face Hyperextensible skin Megalocornea Genu recurvatum Abnormality of the cervical spine Abnormal vertebral segmentation and fusion Hypertonia Attention deficit hyperactivity disorder Telecanthus Joint laxity Wide nose Full cheeks Narrow palpebral fissure Flat occiput Multiple lipomas Pendular nystagmus Broad face Deep palmar crease Broad philtrum Deep plantar creases Long upper lip Finger syndactyly Umbilical hernia Wide nasal ridge Rhizomelic arm shortening Polymicrogyria Abnormality of the skeletal system Skeletal dysplasia Ambiguous genitalia Elbow dislocation Bifid scrotum Dislocated radial head Short humerus Patellar dislocation Short 1st metacarpal Large forehead Bifid nasal tip Hypoplastic distal humeri Abnormality of cardiovascular system morphology Limited elbow flexion/extension Narrow mouth Osteopenia Abnormality of the pinna Blepharophimosis Carious teeth Flat face Microdontia Short palpebral fissure Scrotal hypoplasia Overfolded helix Broad neck Congestive heart failure Large fleshy ears Small scrotum Hypocalcemic seizures Delayed myelination Broad metacarpals Pseudoarthrosis Unerupted tooth Multiple unerupted teeth Intrauterine growth retardation Myopathy Recurrent respiratory infections Prominent forehead Hypogonadism Corneal opacity Small for gestational age Bifid uvula Growth hormone deficiency Broad phalanx Convex nasal ridge Hypocalcemia Recurrent bacterial infections Abnormality of dental enamel Intestinal obstruction Spinal canal stenosis Severe intrauterine growth retardation Hypoparathyroidism Hyperphosphatemia Decreased circulating cortisol level Tetany Aplasia/Hypoplasia affecting the eye Cellular immunodeficiency Broad metatarsal Abnormal bone ossification Abnormal peripheral nervous system morphology Short phalanx of finger Prominent median palatal raphe Hypoplastic areola Unilateral narrow palpebral fissure Respiratory distress Depressivity Craniosynostosis Platyspondyly Short metacarpal Limb undergrowth Choanal atresia Abnormal form of the vertebral bodies Bowing of the long bones Plagiocephaly Abnormality of the nasopharynx Reduced number of teeth Short metatarsal Increased susceptibility to fractures Failure to thrive in infancy Hypoplastic toenails Hypophosphatemia Shallow orbits Hypoplastic scapulae Spondyloepimetaphyseal dysplasia Cloverleaf skull Nasal obstruction Chordee Renal phosphate wasting Abnormality of lower lip



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