Flexion contracture, and Micropenis

Diseases related with Flexion contracture and Micropenis

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

Top matches:

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

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

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

Other less relevant matches:

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

WARBURG MICRO SYNDROME 2; WARBM2 Is also known as micro syndrome 2

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cataract
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 2; WARBM2

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

Related symptoms:

  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about SEVERE CONGENITAL NEMALINE MYOPATHY

Laurence-Moon syndrome has a clinical presentation similar to that of Oliver-McFarlane syndrome (OMIM ), including chorioretinopathy and pituitary dysfunction, but with childhood onset of ataxia, peripheral neuropathy, and spastic paraplegia and without trichomegaly. Historically, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome (see BBS, {209900}) (summary by Hufnagel et al., 2015).Oliver-McFarlane syndrome is an allelic disorder.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LAURENCE-MOON SYNDROME; LNMS

Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

BRACHYDACTYLY, TYPE B1; BDB1 Is also known as bdb|brachydactyly, type b

Related symptoms:

  • Sensorineural hearing impairment
  • Brachydactyly
  • Ventricular septal defect
  • Syndactyly
  • Micropenis


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE B1; BDB1

MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

Top 5 symptoms//phenotypes associated to Flexion contracture and Micropenis

Symptoms // Phenotype % cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Intellectual disability, severe Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scrotal hypoplasia Hypertelorism Camptodactyly Short nose

Rare Symptoms - Less than 30% cases

Cataract Congenital cataract Micrognathia Nystagmus Strabismus Growth delay Microphthalmia Spastic paraplegia Hyporeflexia Adducted thumb Hypoplasia of the corpus callosum Broad thumb Short distal phalanx of finger Motor delay Respiratory failure Facial palsy Brachydactyly Sensorineural hearing impairment Short 1st metacarpal Pigmentary retinopathy Short stature Hearing impairment Retinopathy Prominent nasal bridge Ventricular septal defect Abnormality of the dentition Depressed nasal bridge Respiratory insufficiency Umbilical hernia Thin upper lip vermilion Conductive hearing impairment Cleft lip Wide mouth Cerebellar vermis hypoplasia Dental malocclusion Otitis media Overgrowth Limb undergrowth Ventricular hypertrophy Dental crowding High forehead Short phalanx of finger Gingival overgrowth Increased bone mineral density Macroglossia Oligodontia Chronic otitis media Mesomelia Thickened calvaria Depressed nasal tip Generalized osteosclerosis Narrow naris Triangular mouth Skeletal dysplasia Proptosis Open mouth Abnormal facial shape Paraplegia Retinal degeneration Thick eyebrow Short metacarpal Abnormality of the periventricular white matter Long eyelashes Abnormality of the hand External genital hypoplasia Hypopituitarism Calf muscle hypertrophy Choroideremia Skeletal muscle hypertrophy Wide nasal bridge Generalized muscle weakness Macrocephaly Downslanted palpebral fissures Frontal bossing Abnormality of the skeletal system Anteverted nares Long philtrum Midface retrusion Congenital muscular dystrophy Hernia Left ventricular hypertrophy Clinodactyly Severe short stature Mesomelic short stature Otitis media with effusion Narrow nasal tip Hypoplastic sacrum Cerebellar hypoplasia Elevated serum creatine phosphokinase Abnormal heart morphology Areflexia Dilatation Myopathy Delayed eruption of permanent teeth Absent fingernail Aplasia/Hypoplasia of the middle phalanges of the hand Aplasia/Hypoplasia of the distal phalanges of the toes Distal symphalangism of hands Aplasia/Hypoplasia of the distal phalanges of the hand Absent distal phalanges Cerebral cortical atrophy Proximal symphalangism of hands Aplasia/Hypoplasia of the nails Distal symphalangism Type B brachydactyly Short distal phalanx of toe Aplasia/Hypoplasia of the middle phalanges of the toes Absent phalangeal crease Generalized hypotonia Scoliosis Muscle weakness Cognitive impairment Myopia Cutaneous syndactyly of toes Symphalangism affecting the phalanges of the hand Ventriculomegaly Short long bone Syndactyly Abnormality of the cerebral white matter Finger syndactyly Hypermetropia Toe syndactyly Short foot Wide anterior fontanel Muscular dystrophy Joint contracture of the hand Hip dislocation Hemivertebrae Cutaneous syndactyly Proximal placement of thumb Hypoplastic fingernail Hyperlordosis Polydactyly Anonychia Delayed cranial suture closure Proximal muscle weakness Vertebral fusion Tarsal synostosis Cutaneous finger syndactyly Synostosis of carpal bones Neonatal hypotonia Carpal synostosis Thoracolumbar scoliosis Short middle phalanx of finger Thin ribs Hypogonadism Increased female libido Generalized joint laxity Male hypogonadism 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 Intrauterine growth retardation Sparse body hair Kyphoscoliosis Deeply set eye Sparse hair Camptodactyly of finger Single transverse palmar crease Convex nasal ridge Interphalangeal joint contracture of finger Cutaneous photosensitivity Rocker bottom foot Large beaked nose Seizures Spasticity Hyperreflexia Secondary amenorrhea Hypoplasia of the uterus Hydrocephalus Cleft palate Atrial septal defect Patent ductus arteriosus Posteriorly rotated ears Tachycardia Bulbous nose Tapered finger Status epilepticus Aganglionic megacolon Abnormal autonomic nervous system physiology Cupped ear Agitation Hyperconvex nail Contractures of the interphalangeal joint of the thumb Depressivity Impotence Delayed skeletal maturation Osteoporosis Osteopenia Anxiety Delayed puberty Wide intermamillary distance Decreased testicular size Primary amenorrhea Gynecomastia Hypogonadotrophic hypogonadism Azoospermia Abnormality of the voice Congenital sensorineural hearing impairment Short neck Hypertonia Rod-cone dystrophy Abnormality of the thorax Low-set ears Skeletal muscle atrophy Dysphagia Hypospadias Polyhydramnios Arthrogryposis multiplex congenita Ophthalmoplegia Pulmonary hypoplasia Premature birth Decreased fetal movement Large fontanelles Severe muscular hypotonia Hypokinesia Asymmetry of the ears Hypertension Facial diplegia Nemaline bodies Breech presentation Type 1 muscle fiber predominance Increased connective tissue Axial muscle weakness Multiple prenatal fractures Abnormality of the diaphragm Edema of the dorsum of hands Ataxia Peripheral neuropathy Alopecia Undetectable visual evoked potentials Hypoplastic labia majora Babinski sign Esodeviation Agenesis of corpus callosum Retrognathia Coarse facial features Joint stiffness Small hand Holoprosencephaly Increased intracranial pressure Bilateral cryptorchidism Hemiplegia/hemiparesis Absent septum pellucidum Aqueductal stenosis Visceromegaly Oxycephaly Flexion contracture of thumb Global brain atrophy Optic atrophy Absent speech Brachycephaly Macrotia Muscular hypotonia of the trunk Postnatal growth retardation Severe global developmental delay Polymicrogyria Microcornea Postnatal microcephaly Low anterior hairline Overlapping toe Spastic diplegia Left ventricular systolic dysfunction


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