Cryptorchidism, and Clinodactyly of the 5th finger

Diseases related with Cryptorchidism and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Cryptorchidism and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.


Top matches:

High match 16P13.2 MICRODELETION SYNDROME


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

High match SECKEL SYNDROME 5; SCKL5


Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 5; SCKL5

High match BOWEN-CONRADI SYNDROME


Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

BOWEN-CONRADI SYNDROME Is also known as bowen syndrome, hutterite type|bowen hutterite syndrome, formerly

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BOWEN-CONRADI SYNDROME

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Other less relevant matches:

High match PENOSCROTAL TRANSPOSITION


Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Micrognathia
  • Cryptorchidism
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PENOSCROTAL TRANSPOSITION

High match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

High match LIG4 SYNDROME


LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

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 DPAGT1-CDG


DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPAGT1-CDG

High match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

High match PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Top 5 symptoms//phenotypes associated to Cryptorchidism and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Intrauterine growth retardation Growth delay Strabismus Delayed speech and language development Abnormality of cardiovascular system morphology Clinodactyly Joint stiffness Seizures Anemia

Rare Symptoms - Less than 30% cases


Severe global developmental delay Large beaked nose Short neck Camptodactyly of finger Thin vermilion border Abnormality of the foot Interphalangeal joint contracture of finger Finger clinodactyly Cleft palate Obesity Hypospadias Single transverse palmar crease Webbed neck Short phalanx of finger Hypertelorism Bilateral single transverse palmar creases Hypoplasia of penis Brachydactyly Congenital cataract Flexion contracture Camptodactyly Sloping forehead Downslanted palpebral fissures Generalized hypotonia Muscular hypotonia Micropenis Autism Aggressive behavior Hypothyroidism Abnormality of the skeletal system Wide nasal bridge High palate Cataract Convex nasal ridge Hearing impairment Severe combined immunodeficiency Overlapping toe Dandy-Walker malformation Lumbar hyperlordosis Talipes equinovarus Abnormal vertebral morphology Telangiectasia Congenital hip dislocation Cutaneous photosensitivity Knee flexion contracture Pterygium Decreased muscle mass Bilateral talipes equinovarus Limitation of joint mobility Ptosis Type II diabetes mellitus Cutaneous finger syndactyly Submucous cleft hard palate 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 Bird-like facies Bifid uvula Syndactyly Protruding ear Camptodactyly of toe Pectus excavatum Acute leukemia Biparietal narrowing Kyphoscoliosis Intellectual disability, mild Abnormality of chromosome stability Deeply set eye Hyperlordosis Telangiectasia of the skin Combined immunodeficiency Retinopathy Triangular face Finger syndactyly Arthrogryposis multiplex congenita Ophthalmoplegia Facial asymmetry Talipes Leukocytosis Scoliosis Psoriasiform dermatitis Myelodysplasia Abnormality of bone marrow cell morphology Low anterior hairline Abnormality of skin pigmentation Skin dimples Nystagmus Underdeveloped nasal alae Hypertension Anteverted nares Short nose Malar flattening Midface retrusion Diabetes mellitus Hyperactivity Mandibular prognathia Skeletal dysplasia Small hand Hypoplasia of the maxilla Asthma Round face Short metacarpal Eczema Pulverulent cataract Osteoarthritis Type I diabetes mellitus Accelerated skeletal maturation Increased intracranial pressure Short metatarsal Cone-shaped epiphysis Mild short stature Congenital hypothyroidism Spinal canal stenosis Rhinitis Cone-shaped epiphyses of the phalanges of the hand Blue irides Fair hair Red hair Depressed nasal bridge Nuclear cataract Feeding difficulties Type I transferrin isoform profile Hyperreflexia Tremor Respiratory insufficiency Hypertonia Cerebral atrophy Jaundice Elevated hepatic transaminase Apnea Poor speech Exotropia Progressive microcephaly Infantile spasms Inverted nipples Hypoproteinemia Reduced antithrombin III activity Ectopic anus Polycystic ovaries Abnormality of the elbow Increased serum ferritin Iron deficiency anemia Microcytic anemia Non-midline cleft lip Hypoplastic toenails Abnormality of the fingernails Visual impairment High myopia Anal atresia Low-set, posteriorly rotated ears Photophobia Macrotia Myopia Pancytopenia Endocarditis Lymphoma Abnormality of the genital system Abnormal joint morphology Abnormal lung lobation Severe intrauterine growth retardation Severe postnatal growth retardation Neoplasm Cardiomyopathy Hernia Inguinal hernia Cerebral cortical atrophy Pectus carinatum Wide intermamillary distance Renal agenesis Ambiguous genitalia Primary amenorrhea Renal dysplasia Short chin Gynecomastia Growth abnormality Bifid scrotum Diabetes insipidus Prominent occiput Abnormality of the ureter Shawl scrotum Male pseudohermaphroditism Sparse axillary hair Sparse pubic hair Labial hypoplasia Elevated circulating follicle stimulating hormone level Patellar aplasia Menstrual irregularities Rocker bottom foot Prominent nose Elevated circulating luteinizing hormone level Severe short stature Abnormal facial shape Low-set ears Absent speech Autistic behavior Apraxia Large fontanelles Trigonocephaly Hallux valgus Delayed cranial suture closure Speech apraxia Perseveration Central sleep apnea Premature adrenarche Delayed skeletal maturation Retrognathia Oral cleft Pes planus Blepharophimosis Prominent nasal bridge Hypodontia Oligodontia Clitoral hypertrophy Proportionate short stature Abnormal cortical gyration 11 pairs of ribs Selective tooth agenesis Failure to thrive Ventriculomegaly Feeding difficulties in infancy Small for gestational age Aplasia of the uterus Pseudohypoparathyroidism Lymphadenopathy Abnormal nasal morphology Clubbing Heart murmur Preauricular pit Polycythemia Underdeveloped supraorbital ridges Poor appetite Hyperventilation Double outlet right ventricle Truncus arteriosus Right ventricular hypertrophy Pulmonary artery atresia Breathing dysregulation Interrupted aortic arch Right ventricular failure Overriding aorta Increased body weight Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Absence of the pulmonary valve Hepatomegaly Immunodeficiency Recurrent infections Thrombocytopenia Upslanted palpebral fissure Brachycephaly Abnormality of the nervous system Telecanthus Erythema Leukemia Malabsorption Easy fatigability Sinusitis Perineal hypospadias Congestive heart failure Dimple chin Nephrogenic diabetes insipidus Abnormality of the urethra Penoscrotal hypospadias Abnormal external genitalia Female external genitalia in individual with 46,XY karyotype Absent facial hair Blind vagina Penoscrotal transposition Incomplete male pseudohermaphroditism Scrotal hypospadias Muscle weakness Ventricular septal defect Respiratory distress Patent ductus arteriosus Hemiparesis Arrhythmia Abnormal heart morphology Recurrent respiratory infections Proptosis Dyspnea Respiratory tract infection Paralysis Abnormal cardiac septum morphology Broad forehead Dolichocephaly Pulmonic stenosis Cyanosis Tetralogy of Fallot Ventricular hypertrophy Chronic rhinitis



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