Arthritis, and Micropenis

Diseases related with Arthritis and Micropenis

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


Top matches:

Medium match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Low match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Low match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA; HH15


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of the genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA; HH15

Low match HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD


Related symptoms:

  • Flexion contracture
  • Hypertension
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: MESH OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD

Low match SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Strabismus
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION

Low match NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM


NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Low 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

Low match CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

Low match HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS


HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Top 5 symptoms//phenotypes associated to Arthritis and Micropenis

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Delayed skeletal maturation Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Arthritis and Micropenis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of penis Microcephaly Abnormal facial shape Brachydactyly High pitched voice Intrauterine growth retardation Growth delay Short stature Seizures Strabismus Deeply set eye Severe short stature Hypertelorism Delayed puberty Microdontia

Rare Symptoms - Less than 30% cases


Primary amenorrhea Flexion contracture Small hand Short nose Hypoplasia of the maxilla Posteriorly rotated ears Proportionate short stature Anxiety Global developmental delay Hypospadias Abnormality of the skeletal system Depressed nasal bridge Interphalangeal joint contracture of finger Abnormality of the dentition Motor delay Kyphoscoliosis Abnormality of the voice Hyperreflexia Intellectual disability, severe Atrial septal defect Short neck Hypertension Decreased testicular size Joint stiffness Osteoarthritis Truncal obesity Prematurely aged appearance Underdeveloped supraorbital ridges Abnormality of the elbow Short toe Hypohidrosis Babinski sign Prominent nasal bridge Aplasia/Hypoplasia involving the nose Hypoplastic nasal bridge Neoplasm Depressed nasal ridge Hypercholesterolemia Blue sclerae Delayed eruption of teeth Cognitive impairment Camptodactyly of finger Thin vermilion border Cleft palate Bulbous nose Hypoglycemia High forehead Reduced number of teeth Bilateral ulnar hypoplasia Supernumerary ribs Osteoporosis Hypoplasia of the uterus Depressivity Osteopenia Camptodactyly Wide intermamillary distance Impotence Gynecomastia Hypogonadotrophic hypogonadism Azoospermia Congenital sensorineural hearing impairment Patellar hypoplasia Abnormal autonomic nervous system physiology Short femur Tapered finger Broad fingertip Abnormal soft palate morphology Generalized cerebral atrophy/hypoplasia Mesocardia Sensorineural hearing impairment Hypogonadism Genu valgum Anosmia Small pituitary gland Ventricular septal defect Patent ductus arteriosus Tachycardia Status epilepticus Short tibia Aganglionic megacolon Secondary amenorrhea Cupped ear Agitation Hyperconvex nail Contractures of the interphalangeal joint of the thumb Narrow mouth Hypoplasia of the radius Hypoplasia of the ulna Absent thumb Oligodactyly Fibular hypoplasia Aplasia/Hypoplasia of the radius Sparse body hair Elbow dislocation Generalized joint laxity Hyporeflexia Sparse hair Congenital cataract Single transverse palmar crease Convex nasal ridge Cutaneous photosensitivity Scrotal hypoplasia Rocker bottom foot Large beaked nose Nystagmus Spasticity Hydrocephalus Hypertonia Agenesis of corpus callosum Cataract Retrognathia Coarse facial features Spastic paraplegia Holoprosencephaly Increased intracranial pressure Adducted thumb Bilateral cryptorchidism Hemiplegia/hemiparesis Absent septum pellucidum Aqueductal stenosis Visceromegaly Oxycephaly Esodeviation Microphthalmia Limited elbow flexion/extension Male hypogonadism Malar flattening Decreased serum testosterone level Absence of secondary sex characteristics Breast hypoplasia Decreased testosterone in males Eunuchoid habitus Female hypogonadism Hypoplasia of the ovary Non-obstructive azoospermia Absence of pubertal development Abnormality of body height Increased female libido Frontal bossing Long philtrum Skeletal dysplasia Hypoplastic distal humeri Short palm Ambiguous genitalia Rhizomelia Disproportionate short-limb short stature Enlarged naris Bifid scrotum Dislocated radial head Short humerus Patellar dislocation Short 1st metacarpal Large forehead Bifid nasal tip Rhizomelic arm shortening Curved fingers Language impairment Epididymal cyst Hypothyroidism Intellectual disability, mild Headache Dilatation Abnormality of cardiovascular system morphology Clinodactyly Abnormal heart morphology Inguinal hernia Clinodactyly of the 5th finger Constipation Upslanted palpebral fissure Hyperactivity Mandibular prognathia Gait disturbance Gastroesophageal reflux Umbilical hernia Thin upper lip vermilion Conductive hearing impairment Hydronephrosis Aggressive behavior Joint laxity Telecanthus Intellectual disability, moderate Feeding difficulties in infancy Postnatal growth retardation Vomiting Wide nasal bridge Craniosynostosis Abnormal lung morphology Abnormality of the skull Abnormality of the endocrine system Failure to thrive Respiratory distress Diarrhea Recurrent infections Obesity Pneumonia Prominent forehead Growth hormone deficiency Progressive visual loss Eczema Chronic diarrhea Dysarthria Lymphopenia Increased body weight Short long bone Keratitis External genital hypoplasia Concave nasal ridge Immune dysregulation Delayed menarche Lymphoid interstitial pneumonia Low-set ears High palate Delayed speech and language development Wide mouth Short philtrum Congenital posterior urethral valve 11 pairs of ribs Impulsivity Preauricular pit Celiac disease Short clavicles Sprengel anomaly Lipoma Cone-shaped epiphyses of the phalanges of the hand Short columella Abnormality of the clavicle Short attention span Enuresis Villous atrophy Enlarged joints Trigonocephaly Speech apraxia Hyperextensibility of the finger joints Broad columella Tethered cord Stiff neck Spinal dysraphism Short upper lip Expressive language delay Varicocele Persistent left superior vena cava Pseudoarthrosis Congenital pseudoarthrosis of the clavicle Clubbing Nasal speech Neurological speech impairment Underdeveloped nasal alae Small for gestational age Hypermetropia Malabsorption Poor speech Joint hyperflexibility Smooth philtrum Hirsutism Downturned corners of mouth Triangular face Broad nasal tip Prominent nose Dental malocclusion Otitis media Abnormality of the hand Coarctation of aorta Apraxia Low posterior hairline Short palpebral fissure Recurrent otitis media Broad thumb Long eyelashes Short thumb Generalized hirsutism Finger clinodactyly Nephrocalcinosis Abnormality of the fingernails Flexion contracture of thumb



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Sleep disturbance, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more