Cryptorchidism, and Hip dysplasia

Diseases related with Cryptorchidism and Hip dysplasia

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


Top matches:

High match NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION


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

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C


Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C

High match 1Q21.1 MICRODUPLICATION SYNDROME


1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

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Other less relevant matches:

High 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

High match MEIER-GORLIN SYNDROME 6; MGORS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

High match 1P31P32 MICRODELETION SYNDROME


1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

High 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

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

High match AUTOSOMAL DOMINANT ROBINOW SYNDROME


Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

High match DIASTROPHIC DWARFISM


Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

Top 5 symptoms//phenotypes associated to Cryptorchidism and Hip dysplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Hearing impairment Generalized hypotonia Strabismus Low-set ears Hypertelorism Short stature Short nose Upslanted palpebral fissure Macrocephaly Seizures Long philtrum Muscular hypotonia Hyperactivity Downslanted palpebral fissures Feeding difficulties Midface retrusion Autistic behavior Talipes equinovarus Atrial septal defect Depressed nasal bridge Autism Gastroesophageal reflux Attention deficit hyperactivity disorder Hypoplasia of the corpus callosum Pectus excavatum Delayed speech and language development Severe short stature Failure to thrive Craniosynostosis Hernia Motor delay Inguinal hernia Ptosis Downturned corners of mouth Wide mouth Myopia Microtia

Rare Symptoms - Less than 30% cases


Clinodactyly Behavioral abnormality Hypodontia Microcephaly Preauricular skin tag Smooth philtrum Constipation Abnormality of the skeletal system Cleft palate Clinodactyly of the 5th finger Dysphagia Retrognathia Hydrocephalus Hypertonia Overfolded helix Prominent forehead Hypospadias Ventriculomegaly Ventricular septal defect Mitral regurgitation Intellectual disability, moderate Brachycephaly Hip dislocation Arthrogryposis multiplex congenita Specific learning disability Camptodactyly of finger Short chin Thin upper lip vermilion Wide nasal bridge Sandal gap Intrauterine growth retardation Sparse lateral eyebrow Pain Blue sclerae Kyphoscoliosis Polydactyly Flexion contracture Nystagmus Thick vermilion border Abnormal form of the vertebral bodies Short palm Proximal placement of thumb Hypoplastic labia majora Long palpebral fissure Oligodontia Sacral dimple Open mouth Growth delay Underdeveloped nasal alae Long face Elbow dislocation Triangular face Facial asymmetry Kyphosis Protruding ear Entropion Recurrent respiratory infections High forehead Visual impairment Micromelia Umbilical hernia Laryngomalacia Abnormal facial shape Posteriorly rotated ears Astigmatism Pointed chin Dental crowding Highly arched eyebrow Broad forehead Hypoplasia of penis Hemivertebrae Finger syndactyly Wide nose Gingival overgrowth Short philtrum Long eyelashes Alopecia Proptosis Pectus carinatum High, narrow palate Aggressive behavior Short neck Short foot Epileptic encephalopathy Febrile seizures Focal-onset seizure Esotropia Prominent nose Sleep disturbance Everted lower lip vermilion Low anterior hairline EEG abnormality Small hand Thick eyebrow Bulbous nose Synophrys Hypermetropia Postnatal growth retardation Stereotypy Generalized hirsutism Brachydactyly Cupped ear Epicanthus Abnormality of lower lip Paroxysmal bursts of laughter Hemifacial hypoplasia Macrodontia Short attention span Polyphagia Feeding difficulties in infancy Finger clinodactyly Language impairment Focal impaired awareness seizure Coxa valga Tented upper lip vermilion Infantile muscular hypotonia Widely spaced teeth Absence seizures Self-injurious behavior Skeletal dysplasia Coxa vara Short long bone Abnormality of the clavicle Overweight Hip contracture Ulnar deviation of finger Short finger Hyperextensible skin Disproportionate short-limb short stature Thoracic dysplasia Abnormality of the metacarpal bones Abnormality of the outer ear Joint dislocation Hoarse voice Increased bone mineral density Short phalanx of finger Spinal cord compression Large earlobe Bowing of the long bones Cervical kyphosis Cystic lesions of the pinnae Costal cartilage calcification Laryngotracheal stenosis Glabellar hemangioma Hypoplastic cervical vertebrae Hitchhiker thumb Ulnar deviation of the wrist Symphalangism affecting the phalanges of the hand Spinal deformities Neonatal short-limb short stature Flattened epiphysis Visceral angiomatosis Ulnar deviation of the hand Lethal skeletal dysplasia Irregular epiphyses Abnormality of epiphysis morphology Abnormality of the metaphysis Open bite Median cleft lip and palate Abnormality of the penis Ridged fingernail Curly eyelashes Hypoplastic labia minora Abnormality of the gingiva Clitoral hypoplasia Epispadias Naevus flammeus of the eyelid Fingernail dysplasia Femoral hernia Avascular necrosis of the capital femoral epiphysis Bifid tongue Anodontia Capillary hemangioma Increased number of teeth Euryblepharon Onychogryposis of fingernail Osteoarthritis Joint hyperflexibility Interphalangeal joint contracture of finger Abnormality of the ribs Limb undergrowth Cerebral calcification Full cheeks Talipes Abnormality of the foot Respiratory insufficiency Joint stiffness Low-set, posteriorly rotated ears Arthralgia Pneumonia Abnormal heart morphology Obesity Abnormality of cardiovascular system morphology Coarse facial features Hydronephrosis Gait ataxia Syndactyly Biventricular hypertrophy Hypoplastic heart Cataract Spasticity Intellectual disability, mild Glaucoma Anxiety Tetralogy of Fallot Hallucinations Schizophrenia Relative macrocephaly Constrictive median neuropathy Sensorineural hearing impairment Osteopenia Wide nasal base Developmental regression Tapered finger Dental malocclusion Webbed neck High myopia Low posterior hairline Hypoplasia of dental enamel Microcytic anemia Hypoparathyroidism Down-sloping shoulders Moderate global developmental delay Long toe Hypochromic anemia Short 2nd finger Narrow naris Hypoplasia of the musculature Conductive hearing impairment Joint laxity Hyporeflexia Abnormal cardiac septum morphology Neurological speech impairment Dolichocephaly Poor speech Postaxial polydactyly Wide intermamillary distance Bicuspid aortic valve Overlapping toe Inverted nipples Thickened nuchal skin fold Wide nasal ridge Pes planus Broad nasal tip Hand clenching Convex nasal ridge Mitral valve prolapse Decreased body weight Knee flexion contracture Aortic regurgitation Cutis laxa Bilateral cryptorchidism Tricuspid regurgitation Right bundle branch block Bundle branch block Disproportionate tall stature Reduced subcutaneous adipose tissue Broad columella Pneumothorax Delayed skeletal maturation Hyperlordosis Encephalopathy Partial absence of the septum pellucidum Sparse eyebrow Obsessive-compulsive behavior Cutis marmorata Absent septum pellucidum Syringomyelia Arnold-Chiari type I malformation Narrow nose Arachnoid cyst Broad face Metopic synostosis Ureterocele Intraventricular hemorrhage Craniofacial asymmetry Thrombocytopenia Aplasia/Hypoplasia of the corpus callosum Dilated cardiomyopathy Optic nerve hypoplasia Chronic otitis media Biparietal narrowing Abnormal hair pattern Increased mean corpuscular volume Colpocephaly Single median maxillary incisor Periventricular gray matter heterotopia Ataxia Fever Intellectual disability, severe Vomiting Malar flattening Abnormality of the urinary system Renal hypoplasia Respiratory tract infection Bronchomalacia Small for gestational age Delayed puberty Single transverse palmar crease Delayed myelination Growth hormone deficiency Lumbar hyperlordosis Depressed nasal ridge Microretrognathia Short middle phalanx of finger Emphysema Cortical gyral simplification Tracheomalacia Stenosis of the external auditory canal Patellar aplasia Subglottic stenosis Pigmentary retinopathy Tracheobronchomalacia Nasogastric tube feeding Cognitive impairment Hypertension Dilatation Agenesis of corpus callosum Narrow mouth Jaundice Retinopathy Thin vermilion border Polymicrogyria Vesicoureteral reflux Urinary incontinence Overgrowth Hypertrophic auricular cartilage



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