Flexion contracture, and Hypoplasia of penis

Diseases related with Flexion contracture and Hypoplasia of penis

In the following list you will find some of the most common rare diseases related to Flexion contracture and Hypoplasia of penis 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

Low match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

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

Top 5 symptoms//phenotypes associated to Flexion contracture and Hypoplasia of penis

Symptoms // Phenotype % cases
Micropenis Very Common - Between 80% and 100% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Broad thumb Uncommon - Between 30% and 50% cases
Scrotal hypoplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Microcephaly Global developmental delay Camptodactyly Intellectual disability Short nose

Rare Symptoms - Less than 30% cases

Macrotia Camptodactyly of finger Long philtrum Microphthalmia Ventricular septal defect Downslanted palpebral fissures Macrocephaly Hearing impairment Brachydactyly Finger syndactyly Sensorineural hearing impairment Prominent nasal bridge Cataract Short 1st metacarpal Retrognathia Nystagmus Short stature Joint stiffness Spastic paraplegia Hypertonia Intellectual disability, severe Growth delay Short distal phalanx of finger Spasticity Depressed nasal bridge Abnormality of the dentition Adducted thumb Congenital cataract Dental crowding Short phalanx of finger Gingival overgrowth Proximal symphalangism of hands Increased bone mineral density Oligodontia Chronic otitis media Mesomelia Thickened calvaria Generalized osteosclerosis Narrow naris Triangular mouth Mesomelic short stature Narrow nasal tip Depressed nasal tip Cleft lip Limb undergrowth Frontal bossing Polydactyly Retinopathy Paraplegia Retinal degeneration Thick eyebrow Short metacarpal Pigmentary retinopathy Long eyelashes Abnormality of the hand External genital hypoplasia Hypopituitarism Choroideremia Abnormal facial shape Wide nasal bridge Abnormality of the skeletal system Overgrowth Anteverted nares Midface retrusion Hernia Clinodactyly Severe short stature Proptosis High forehead Skeletal dysplasia Umbilical hernia Thin upper lip vermilion Conductive hearing impairment Wide mouth Dental malocclusion Otitis media Otitis media with effusion Low-set, posteriorly rotated ears Scoliosis Synostosis of carpal bones Wide anterior fontanel Joint contracture of the hand Hemivertebrae Cutaneous syndactyly Short long bone Proximal placement of thumb Short middle phalanx of finger Anonychia Delayed cranial suture closure Vertebral fusion Tarsal synostosis Cutaneous finger syndactyly Carpal synostosis Toe syndactyly Thoracolumbar scoliosis Hypoplastic fingernail Symphalangism affecting the phalanges of the hand Cutaneous syndactyly of toes Distal symphalangism Delayed eruption of permanent teeth Aplasia/Hypoplasia of the nails 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 Hypoplastic sacrum Short foot Hypermetropia Talipes equinovarus Tall stature Abnormality of cardiovascular system morphology Inguinal hernia Pes cavus Absent distal phalanges Feeding difficulties in infancy Broad forehead Rod-cone dystrophy Joint hyperflexibility Aplasia/Hypoplasia of the middle phalanges of the toes Round face Fine hair Abnormality of the metaphysis Hoarse voice Syndactyly Abnormality of the fingernails Accelerated skeletal maturation Short distal phalanx of toe Type B brachydactyly Sandal gap Deep philtrum Redundant skin Large hands Hypoplastic toenails Broad foot Thin nail Deep-set nails Abnormally low-pitched voice Hypogonadism Abnormality of the thorax Alopecia Abnormality of body height Secondary amenorrhea 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 Increased female libido Hypoplasia of the uterus Intrauterine growth retardation Kyphoscoliosis Deeply set eye Sparse hair Single transverse palmar crease Convex nasal ridge Interphalangeal joint contracture of finger Cutaneous photosensitivity Rocker bottom foot Large beaked nose Seizures Strabismus Hyperreflexia Sparse body hair Impotence Hydrocephalus Contractures of the interphalangeal joint of the thumb 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 Cleft palate Congenital sensorineural hearing impairment Depressivity Delayed skeletal maturation Osteoporosis Osteopenia Anxiety Delayed puberty Wide intermamillary distance Decreased testicular size Primary amenorrhea Gynecomastia Hypogonadotrophic hypogonadism Azoospermia Abnormality of the voice Short neck Hyporeflexia Peripheral neuropathy Large fontanelles Motor delay Skeletal muscle atrophy Dysphagia Hypospadias Respiratory failure Polyhydramnios Facial palsy Arthrogryposis multiplex congenita Ophthalmoplegia Pulmonary hypoplasia Premature birth Decreased fetal movement Severe muscular hypotonia Undetectable visual evoked potentials Hypertension Hypokinesia Thin ribs 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 Low-set ears Asymmetry of the ears Babinski sign Flexion contracture of thumb Agenesis of corpus callosum Coarse facial features Small hand Holoprosencephaly Increased intracranial pressure Bilateral cryptorchidism Hemiplegia/hemiparesis Absent septum pellucidum Aqueductal stenosis Visceromegaly Oxycephaly Esodeviation Optic atrophy Hypoplastic labia majora Hypoplasia of the corpus callosum Absent speech Brachycephaly Muscular hypotonia of the trunk Postnatal growth retardation Severe global developmental delay Polymicrogyria Microcornea Postnatal microcephaly Low anterior hairline Overlapping toe Spastic diplegia Global brain atrophy Absent phalangeal crease


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