Frontal bossing, and Inguinal hernia

Diseases related with Frontal bossing and Inguinal hernia

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

Top matches:

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA (ACG1A ), corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB, corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder.

ACHONDROGENESIS, TYPE IB; ACG1B Is also known as achondrogenesis, fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACHONDROGENESIS, TYPE IB; ACG1B

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

Other less relevant matches:

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

High match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (OMIM ), corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder. Genetic Heterogeneity of AchondrogenesisAchondrogenesis type IB (ACG1B ) is caused by mutation in the DTDST gene (OMIM ), and achondrogenesis type II (ACG2 ) is caused by mutation in the COL2A1 gene (OMIM ).

ACHONDROGENESIS, TYPE IA; ACG1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about ACHONDROGENESIS, TYPE IA; ACG1A

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Inguinal hernia

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Long philtrum Common - Between 50% and 80% cases
Hernia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Short neck Generalized hypotonia High palate Hypertelorism Short nose Microcephaly Muscular hypotonia Wide nasal bridge Intellectual disability Scoliosis Motor delay Talipes equinovarus Joint hypermobility Growth delay Seizures Postnatal growth retardation Intrauterine growth retardation Strabismus Flat face Failure to thrive Autism Downslanted palpebral fissures Midface retrusion Attention deficit hyperactivity disorder Prominent forehead Hyperactivity Narrow mouth Protuberant abdomen Umbilical hernia Hip dislocation Polyhydramnios Anteverted nares Malar flattening

Rare Symptoms - Less than 30% cases

Autistic behavior Congenital hip dislocation Pain Thoracic hypoplasia Protruding ear Pectus carinatum Adducted thumb Narrow chest Agenesis of corpus callosum Cataract Feeding difficulties Corneal opacity Clinodactyly of the 5th finger Cutis laxa Abnormality of the skeletal system Growth abnormality Prominent supraorbital ridges Epicanthus Hepatomegaly Intellectual disability, mild Coarse facial features Hepatosplenomegaly Sensorineural hearing impairment Short stature Expressive language delay Hoarse voice Osteoarthritis Short foot Multiple epiphyseal dysplasia Severe short stature Abnormal enchondral ossification Epiphyseal dysplasia Micrognathia Aplasia/Hypoplasia of the lungs Thickened nuchal skin fold Cystic hygroma Edema Abnormality of cardiovascular system morphology Short thorax Hydrops fetalis Short ribs Micromelia Joint dislocation Behavioral abnormality Interrupted aortic arch Heparan sulfate excretion in urine Bowel incontinence Short finger Abnormal heart valve morphology Joint hyperflexibility Rhinitis Papilledema Functional motor deficit Thenar muscle atrophy Obstructive lung disease Thoracolumbar kyphosis Abnormality of the skull Flared nostrils Mucopolysacchariduria Multiple joint contractures Clubbing of fingers Wrist flexion contracture Toe syndactyly Hand polydactyly Abnormality of the skin Widely spaced teeth Sleep disturbance Episodic abdominal pain Dysostosis multiplex Upper airway obstruction Prolonged partial thromboplastin time Periorbital fullness Abnormality of the mitochondrion Prolonged prothrombin time Long hallux Spinal deformities Vesicoureteral reflux Gait disturbance Thickened skin Congestive heart failure Mandibular prognathia Conductive hearing impairment Hirsutism Full cheeks Urinary incontinence Prominent nose Otitis media Iris coloboma Abnormality of the cardiovascular system Bulbous nose Abnormality of mucopolysaccharide metabolism Restricted chest movement Dermatan sulfate excretion in urine Abnormal hand bone ossification Decreased skull ossification Disproportionate short-trunk short stature Intellectual disability, moderate Femoral hernia Hypoplastic ischia Broad clavicles Beaded ribs Unossified vertebral bodies Foot polydactyly Joint laxity Abnormal foot bone ossification Abnormality of the femoral metaphysis Barrel-shaped chest Cryptorchidism Aggressive behavior Hydrocephalus Microphthalmia Depressivity Patent ductus arteriosus Deeply set eye Hydronephrosis Transposition of the great arteries High hypermetropia Anxiety Hypoplastic scapulae Schizophrenia Tonsillitis Coarctation of aorta Recurrent upper and lower respiratory tract infections Incisional hernia Broad hallux Abnormality of nasopharyngeal adenoids Abnormality of the Eustachian tube Ridged cranial sutures Abnormal cardiac septum morphology Cleft palate Broad hallux phalanx Depressed nasal bridge Truncus arteriosus Respiratory failure Upper limb undergrowth Proptosis Broad thumb Premature birth Limb undergrowth Abnormality of the ribs Short chin Hypoplasia of the radius Disproportionate short stature Thin ribs Protruding tongue Short clavicles Lethal skeletal dysplasia Polymicrogyria Hypoplastic nipples Camptodactyly Lissencephaly Large for gestational age Disproportionate tall stature Muscle weakness Myopathy Cerebral atrophy Brachycephaly Arthralgia Myalgia Telecanthus Scarring Tall stature Talipes Arachnodactyly Bruising susceptibility Generalized muscle weakness Mitral valve prolapse Blue sclerae Mitral regurgitation Dental crowding Delayed gross motor development Hyperextensible skin Patent foramen ovale Pointed chin Hypoplasia of penis Fragile skin Skeletal dysplasia Obesity Pectus excavatum Clinodactyly Finger syndactyly Genu valgum Brain atrophy Abnormality of epiphysis morphology Lymphedema Molar tooth sign on MRI Enlarged joints Respiratory insufficiency Abdominal distention Overgrowth Hypoplastic ilia Breech presentation Neonatal short-limb short stature Abnormality of bone mineral density Absent or minimally ossified vertebral bodies Ventriculomegaly Hypoplasia of the corpus callosum Cerebellar atrophy Micropenis High forehead Wide nose Bilateral talipes equinovarus Facial hypotonia 2-3 toe syndactyly Thin upper lip vermilion Coarse hair Redundant skin Brittle hair Lipodystrophy Severe intrauterine growth retardation Oxycephaly Abnormal isoelectric focusing of serum transferrin Cognitive impairment Splenomegaly Abnormality of metabolism/homeostasis Abdominal pain Elevated hepatic transaminase Large fontanelles Developmental regression Synophrys Smooth philtrum High, narrow palate Macroglossia Memory impairment Low posterior hairline Generalized hirsutism Sleep apnea Hyperkinesis Cholelithiasis Wide anterior fontanel Pachygyria Hypoplasia of the musculature Delayed cranial suture closure Osteopenia Broad forehead Congenital cataract Triangular face Oligohydramnios Thin skin Wormian bones Spontaneous abortion Aortic regurgitation Unilateral renal agenesis Brisk reflexes Reduced subcutaneous adipose tissue High myopia Spinal canal stenosis Premature skin wrinkling Calcaneovalgus deformity Dermal translucency Small foramen magnum Myopia Pes planus Feeding difficulties in infancy Carious teeth Confusion Dandy-Walker malformation Ankyloglossia


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