Frontal bossing, and Micropenis

Diseases related with Frontal bossing and Micropenis

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


Top matches:

High match MECKEL SYNDROME, TYPE 10; MKS10


Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

High match JOUBERT SYNDROME 26; JBTS26


Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

High 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

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Other less relevant matches:

High match 17P13.3 MICRODUPLICATION SYNDROME


17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

High match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

High match SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20

High match ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1


The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1

High match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

High match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


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

High match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Micropenis

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypospadias Depressed nasal bridge Global developmental delay Severe short stature Nystagmus Cleft lip Growth hormone deficiency Low-set ears Micrognathia Muscular hypotonia Growth delay Intellectual disability Hearing impairment Abnormality of the skeletal system Hypoplasia of penis Generalized hypotonia Ataxia Short stature Prominent forehead Macrocephaly Abnormality of the pinna Midface retrusion

Rare Symptoms - Less than 30% cases


Failure to thrive Abnormality of the genital system Bifid scrotum Thin upper lip vermilion Craniosynostosis Hypogonadism Sensorineural hearing impairment Scoliosis Microcephaly Brachycephaly Attention deficit hyperactivity disorder Overgrowth High forehead Motor delay Wide nasal bridge Autism Hyperactivity Downslanted palpebral fissures Ventriculomegaly Short neck Cerebellar atrophy Hernia Ambiguous genitalia Seizures Gait ataxia Camptodactyly Cognitive impairment Small for gestational age Anteverted nares Conductive hearing impairment Cerebellar hypoplasia Hypothyroidism Proptosis Scrotal hypoplasia Polydactyly Postaxial polydactyly Molar tooth sign on MRI Skeletal dysplasia Malar flattening Ptosis Long philtrum Long eyelashes Sparse scalp hair Labial hypoplasia Abnormality of the endocrine system Clumsiness Choanal stenosis Choroideremia Alopecia areata Titubation Recurrent hypoglycemia Gynecomastia Horizontal nystagmus Hypogonadotrophic hypogonadism Sensory axonal neuropathy Cloverleaf skull Femoral bowing Chorioretinal atrophy Tarsal synostosis Retinal atrophy Carpal synostosis Progressive gait ataxia Abnormality of abdomen morphology Peripheral neuropathy Chordee Muscle weakness Alopecia Rod-cone dystrophy Central heterochromia Hypoglycemia Pallor Sparse hair Distal muscle weakness Spastic paraplegia Delayed puberty Paraplegia Peripheral axonal neuropathy Maternal virilization in pregnancy Pigmentary retinopathy Low maternal serum estriol Vesicovaginal fistula Abnormalities of placenta or umbilical cord Bronchomalacia Ulnar bowing Retinal degeneration Humeroradial synostosis Distal amyotrophy Thick eyebrow Obesity Progressive cerebellar ataxia Long eyebrows Thickened calvaria Brachydactyly Focal-onset seizure Macrotia Deeply set eye Neonatal hypotonia Intellectual disability, moderate Short philtrum Neurological speech impairment Poor speech Dysmetria Long face Abnormal cerebellum morphology Triangular face Prominent nose Hypotelorism Cerebral cortical atrophy Cerebellar vermis hypoplasia Intention tremor Prominent supraorbital ridges Focal impaired awareness seizure External genital hypoplasia Long nose Poor eye contact Enlarged cisterna magna Microphallus Abnormality of the philtrum Retrocerebellar cyst Infra-orbital crease Mandibular prognathia Dilatation Abnormality of the dentition Oligodontia Clinodactyly Umbilical hernia Wide mouth Short distal phalanx of finger Dental malocclusion Otitis media Limb undergrowth Broad thumb Dental crowding Short phalanx of finger Gingival overgrowth Increased bone mineral density Chronic otitis media Intellectual disability, severe Mesomelia Rocker bottom foot Depressed nasal tip Generalized osteosclerosis Narrow naris Triangular mouth Mesomelic short stature Narrow nasal tip Otitis media with effusion Strabismus Spasticity Delayed speech and language development Tremor Multiple joint contractures Thoracic dysplasia Clitoral hypertrophy Inguinal hernia Short humerus Patellar dislocation Short 1st metacarpal Large forehead Bifid nasal tip Rhizomelic arm shortening Hypoplastic distal humeri Limited elbow flexion/extension High palate Hypoplasia of the corpus callosum Behavioral abnormality Clinodactyly of the 5th finger Elbow dislocation Narrow mouth Wide nose Tall stature Pointed chin Congenital hip dislocation Lissencephaly Large for gestational age Disproportionate tall stature Intrauterine growth retardation Delayed skeletal maturation Hydronephrosis Postnatal growth retardation Dislocated radial head Disproportionate short-limb short stature Muscular dystrophy Anencephaly Epicanthus Hydrocephalus Patent ductus arteriosus Retrognathia Renal cyst Encephalocele Heterotopia Exotropia Narrow palpebral fissure Sacral dimple Occipital encephalocele Recurrent infections Rhizomelia Apraxia Oculomotor apraxia Tachypnea Cone/cone-rod dystrophy Recurrent upper respiratory tract infections Bilateral ptosis Panhypopituitarism Central hypothyroidism Ectopic posterior pituitary Inferior vermis hypoplasia Short palm Hypoplasia of the maxilla Respiratory tract infection Micromelia Radioulnar synostosis Absent nasal bridge Lateral clavicle hook Horizontal ribs Uterus didelphys Hypoplastic pubic bone Long thorax Hamartoma of tongue Multiple skeletal anomalies Laryngeal hypoplasia Septate vagina Decreased calvarial ossification Large posterior fontanelle Narrow sacroiliac notch Short tibia Esophageal diverticulum Flexion contracture Abnormality of metabolism/homeostasis Arachnodactyly Oligohydramnios Choanal atresia Joint contracture of the hand Horseshoe kidney Hemivertebrae Arnold-Chiari malformation Laryngomalacia Polycystic ovaries Complete atrioventricular canal defect Fibular hypoplasia Bilateral sensorineural hearing impairment Metaphyseal cupping Hypocalcemia Nephrocalcinosis Short long bone Hypercalciuria Hypercalcemia Epiphyseal dysplasia Bilateral cryptorchidism Adrenal insufficiency Metaphyseal dysplasia Primary adrenal insufficiency Adrenal hypoplasia Congenital adrenal hypoplasia Natal tooth Respiratory insufficiency Microphthalmia Microtia Narrow chest Anal atresia Oral cleft Pulmonary hypoplasia Tetralogy of Fallot Low posterior hairline Wide anterior fontanel Short ribs Preaxial polydactyly Disorganization of the anterior cerebellar vermis



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