Cryptorchidism, and Dolichocephaly

Diseases related with Cryptorchidism and Dolichocephaly

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65

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

Other less relevant matches:

NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION

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

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.

SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME Is also known as sams syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape|gcps

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

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

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Dolichocephaly

Symptoms // Phenotype % cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Strabismus High palate Feeding difficulties Malar flattening Scaphocephaly Hypospadias Short stature Flexion contracture Generalized hypotonia Muscle weakness Accelerated skeletal maturation Craniosynostosis Scoliosis Ventricular septal defect Cleft palate Midface retrusion Micrognathia Hernia Abnormal facial shape Hypertelorism Inguinal hernia

Rare Symptoms - Less than 30% cases

Postaxial polydactyly Abnormal cardiac septum morphology Polydactyly Breech presentation Pectus excavatum Abnormality of the skeletal system Umbilical hernia Agenesis of corpus callosum Kyphosis Rhizomelia Hypotelorism Micropenis Myopathy Intrauterine growth retardation Open mouth Proximal placement of thumb Thickened nuchal skin fold Anteverted nares Decreased fetal movement Hip dislocation Narrow mouth Prominent forehead Respiratory insufficiency Cognitive impairment Macrotia Wide nasal bridge Arthrogryposis multiplex congenita Myopathic facies Underdeveloped supraorbital ridges Preauricular pit Broad forehead Proptosis Abnormal heart morphology Arrhythmia Respiratory distress Hydrocephalus Wide intermamillary distance Thin vermilion border Abnormality of the fingernails Brachydactyly Low hanging columella Narrow chest Macrocephaly Short neck Myopia Hypoplastic ilia Prominent nasal bridge Camptodactyly Hypoplastic scapulae Astigmatism Lymphedema Adducted thumb Small nail Redundant neck skin Respiratory insufficiency due to muscle weakness Cloverleaf skull Thickened helices Severe muscular hypotonia Bilateral single transverse palmar creases Failure to thrive in infancy Spinal muscular atrophy Congenital contracture Fever Pes cavus Elevated serum creatine phosphokinase Dilatation Abnormality of the pancreas Renal insufficiency Hypertonia Epicanthus Aplasia/Hypoplasia of the earlobes Low-set ears Proximal spinal muscular atrophy Skin dimples Microphallus Degeneration of anterior horn cells Tongue fasciculations Multiple joint contractures Interphalangeal joint contracture of finger Visceral angiomatosis Oxycephaly Muscular hypotonia Postaxial foot polydactyly Abnormality of finger High anterior hairline Broad hallux phalanx Preaxial foot polydactyly Medulloblastoma Cutaneous syndactyly of toes Metopic synostosis Abnormality of muscle fibers Camptodactyly of toe Abnormality of calvarial morphology 3-4 finger syndactyly Duplication of the distal phalanx of hand 1-3 toe syndactyly Skeletal muscle atrophy Hypoplasia of penis Gait disturbance Palmoplantar cutis gyrata Prominent scrotal raphe Short nose Long philtrum Abnormality of metabolism/homeostasis Areflexia Prominent umbilicus Palmoplantar cutis laxa Facial palsy Joint stiffness Camptodactyly of finger Craniofacial dysostosis Acidosis Hyperhidrosis Proximal muscle weakness Kyphoscoliosis Melanocytic nevus Abnormality of vision Long upper lip Congenital ptosis Reduced number of teeth Redundant skin Diaphragmatic eventration Respiratory arrest Mixed respiratory and metabolic acidosis Severe lactic acidosis Bifid scrotum Limited elbow extension Natal tooth Hyperphosphatemia Thoracic kyphosis Sinus tachycardia Depressed nasal bridge Myoglobinuria Gingival overgrowth Epidermal acanthosis Overgrowth Abnormality of the face Palmoplantar keratoderma Subcutaneous nodule Abnormality of the eye Abnormality of the nail Hypertension Narrow palate Low-set, posteriorly rotated ears Ventriculomegaly Optic atrophy Acanthosis nigricans Arnold-Chiari malformation Malignant hyperthermia Acute kidney injury Rigidity Limb muscle weakness Metabolic acidosis Joint hypermobility Skin tags Tachycardia Lactic acidosis Hypoplasia of the zygomatic bone Muscular dystrophy Abnormal bleeding Pectus carinatum Choanal stenosis Stroke Hyperlordosis Myalgia Choanal atresia Muscle cramps Abnormality of the skull Anteriorly placed anus Ventricular fibrillation Rhabdomyolysis Abnormality of the sternum Cutaneous finger syndactyly Hyperkalemia Turricephaly Abnormality of the coagulation cascade Myotonia Webbed neck Deep philtrum Ventricular arrhythmia Tachypnea Shock Lumbar hyperlordosis Hypotension Hearing abnormality Foot polydactyly Dislocated radial head Abnormality of digit Scrotal hypoplasia Hyporeflexia Pain Broad femoral neck Obstructive sleep apnea 2-3 toe syndactyly Metaphyseal widening Coxa valga Hyperactivity Retrognathia Autism Gait ataxia Motor delay Cataract Failure to thrive Constipation Attention deficit hyperactivity disorder Snail-like ilia Bicuspid aortic valve Wide nasal ridge Sparse lateral eyebrow Inverted nipples Long palpebral fissure Overlapping toe Oligodontia Sacral dimple Microtia Hip dysplasia Underdeveloped nasal alae Downturned corners of mouth Long face Poor speech Neurological speech impairment Microcephaly Increased fibular diameter Anemia Edema Abnormality of the metaphysis Micromelia Platyspondyly Skeletal dysplasia Polyhydramnios Severe short stature Square face Short ribs Prominent metopic ridge Supernumerary nipple Bulbous nose Smooth philtrum Atrial septal defect Hypoplasia of the corpus callosum Abnormal form of the vertebral bodies Spontaneous abortion Advanced tarsal ossification Vertebral hypoplasia Unossified vertebral bodies Dumbbell-shaped long bone Severe hydrops fetalis Advanced ossification of carpal bones Anterior rib cupping Hypoplastic vertebral bodies Lateral clavicle hook Disproportionate short-limb short stature Diaphyseal thickening Ovoid vertebral bodies Flat acetabular roof Fibular hypoplasia Hypoplastic toenails Metaphyseal irregularity Growth delay Congestive heart failure Partial agenesis of the corpus callosum Delayed speech and language development Finger syndactyly Telecanthus High forehead Syndactyly Intellectual disability, mild Frontal bossing Scapulohumeral synostosis Confusion Delayed ossification of pubic rami Short humerus Atresia of the external auditory canal Abnormality of the genitourinary system Talipes Conductive hearing impairment Toe syndactyly Hirsutism Microphthalmia Hand polydactyly Delayed cranial suture closure Broad hallux Large for gestational age Preaxial hand polydactyly Hyperglycemia Trigonocephaly Preaxial polydactyly Postural instability Cutaneous syndactyly Plagiocephaly Joint contracture of the hand Broad thumb Congenital diaphragmatic hernia Postaxial hand polydactyly Deeply set eye Talipes equinovarus Abnormality of cardiovascular system morphology Pulmonic stenosis Increased body weight Sinusitis Hemiparesis Ventricular hypertrophy Tetralogy of Fallot Cyanosis Paralysis Clubbing Respiratory tract infection Dyspnea Recurrent respiratory infections Clinodactyly of the 5th finger Patent ductus arteriosus Clinodactyly Easy fatigability Heart murmur Hearing impairment Right ventricular failure Absence of the pulmonary valve Tetralogy of Fallot with absent pulmonary valve Pulmonary valve atresia Overriding aorta Endocarditis Abnormal nasal morphology Interrupted aortic arch Polycythemia Breathing dysregulation Pulmonary artery atresia Right ventricular hypertrophy Truncus arteriosus Double outlet right ventricle Hyperventilation Poor appetite Preauricular skin furrow


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