Frontal bossing, and Protruding ear

Diseases related with Frontal bossing and Protruding ear

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


Top matches:

High match FG SYNDROME 2; FGS2

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Delayed speech and language development
  • Macrocephaly


SOURCES: OMIM UMLS GARD MONDO

More info about FG SYNDROME 2; FGS2

High match THREE M SYNDROME 2; 3M2

THREE M SYNDROME 2; 3M2 Is also known as 3m syndrome 2

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Pica
  • Short neck
  • Frontal bossing


SOURCES: UMLS MONDO MESH OMIM

More info about THREE M SYNDROME 2; 3M2

High match THREE M SYNDROME 3; 3M3

The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (OMIM ).

THREE M SYNDROME 3; 3M3 Is also known as 3m syndrome 3

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Growth delay
  • Short neck
  • Frontal bossing


SOURCES: UMLS OMIM MONDO

More info about THREE M SYNDROME 3; 3M3

Mendelian

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

Learn more

Other less relevant matches:

High match MENTAL RETARDATION, X-LINKED 93; MRX93

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: MESH OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

High match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

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:

  • Autosomal recessive inheritance
  • Abnormal facial shape
  • Muscle weakness
  • Myopathy
  • High palate


SOURCES: MONDO UMLS OMIM

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

High match TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3

Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Muscular hypotonia
  • High palate


SOURCES: ORPHANET

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3

High match CRANIOECTODERMAL DYSPLASIA 4; CED4

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Frontal bossing


SOURCES: MONDO UMLS OMIM

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

High match CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

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:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM UMLS DOID MONDO

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B

The phenotype of autosomal recessive cutis laxa type II (ARCL2) includes cutis laxa of variable severity, abnormal growth, developmental delay, and associated skeletal abnormalities (summary by Morava et al., 2009). No specific clinical features distinguish ARCL2A (OMIM ), which includes a glycosylation defect, and ARCL2B, in which abnormal glycosylation has not been reported (Morava et al., 2009; Guernsey et al., 2009).For a phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B Is also known as cutis laxa with progeroid features;arcl2, progeroid type; arcl2b; autosomal recessive cutis laxa type 2, progeroid type

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Microcephaly


SOURCES: UMLS ORPHANET MONDO GARD OMIM DOID MESH

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B

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 trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina, eyelashes, long, with mental retardation;long eyelashes-intellectual disability syndrome; oliver-mcfarlane syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Pica
  • Ataxia
  • Growth delay


SOURCES: GARD UMLS OMIM ORPHANET MESH SCTID MONDO

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Top 5 symptoms//phenotypes associated to Frontal bossing and Protruding ear

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Triangular face Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Prominent forehead Pointed chin Scoliosis Cutis laxa Hyperlordosis Midface retrusion Malar flattening Long philtrum Pica Joint hypermobility Macrocephaly Failure to thrive

Rare Symptoms - Less than 30% cases


Hip dislocation Abnormal facial shape Abnormality of the dentition Macrotia Micrognathia Premature skin wrinkling Short neck Rod-cone dystrophy High palate Muscle weakness Cryptorchidism Downslanted palpebral fissures Talipes equinovarus Adducted thumb Inguinal hernia Hernia Brachycephaly Delayed speech and language development Pectus excavatum Blue sclerae Muscular hypotonia Recurrent pneumonia Dolichocephaly Intrauterine growth retardation Oxycephaly Broad forehead Slender long bone Short distal phalanx of finger Bulbous nose Microcephaly Small for gestational age Hip dysplasia Global developmental delay Sparse hair Anteverted nares Osteopenia Gastroesophageal reflux Joint laxity Bowing of the long bones Postnatal growth retardation Large fontanelles Hypoplasia of the maxilla Hypotelorism Recurrent fractures Mandibular prognathia Deeply set eye Small foramen magnum Osteoporosis Reduced subcutaneous adipose tissue Autistic behavior Spontaneous abortion Oligohydramnios Thin skin Wormian bones Aortic regurgitation Delayed cranial suture closure Unilateral renal agenesis Brisk reflexes Agenesis of corpus callosum Spinal canal stenosis Dermal translucency Calcaneovalgus deformity Thin calvarium Redundant skin Hypertelorism Epicanthus Ventriculomegaly Hydrocephalus Congenital hip dislocation Progressive gait ataxia Prominent superficial veins Long eyelashes Peripheral axonal neuropathy Hypoplasia of penis Growth hormone deficiency Progressive cerebellar ataxia Pigmentary retinopathy Sparse scalp hair Clumsiness Gynecomastia Long eyebrows Distal amyotrophy Horizontal nystagmus Hypogonadotrophic hypogonadism Retinal atrophy Sensory axonal neuropathy Alopecia areata Titubation Choroideremia Recurrent hypoglycemia Thick eyebrow Delayed puberty Colpocephaly Micropenis Narrow nasal ridge Ataxia Nystagmus Peripheral neuropathy Tics Cerebellar atrophy Obesity Alopecia Severe short stature Retinal degeneration Gait ataxia Hypogonadism Corneal opacity Hypothyroidism Hypoglycemia Retinopathy Distal muscle weakness Pallor Coma Full cheeks Congenital cataract Arachnodactyly Thoracic kyphosis Myopathy Pain Cerebral atrophy Telecanthus Myalgia Talipes Generalized muscle weakness Tall stature Scarring Dental crowding Patent foramen ovale Delayed gross motor development Bilateral talipes equinovarus Fragile skin Clinodactyly of the 5th finger Cupped ear Long face Pectus carinatum Scapular winging Constipation Neonatal hypotonia X-linked inheritance Anteriorly placed anus Large forehead Underdeveloped superior crus of antihelix Thick vermilion border Prominent nasal tip Pes planus Prominent calcaneus Clinodactyly Short thorax Increased vertebral height Intellectual disability, mild Kyphosis X-linked recessive inheritance Camptodactyly of finger Short metacarpal Autism Sagittal craniosynostosis Asthma Bone marrow hypocellularity Cone/cone-rod dystrophy Nephronophthisis Cutaneous finger syndactyly Elevated serum creatinine Pes valgus Broad distal phalanx of finger Stage 5 chronic kidney disease Broad phalanx of the toes Autosomal dominant inheritance Strabismus Cataract Low-set ears Feeding difficulties Polyhydramnios Ectodermal dysplasia Nephropathy Sparse and thin eyebrow Long upper lip Sparse eyelashes Short metatarsal Cone-shaped epiphysis Increased number of teeth Fragile nails Avascular necrosis of the capital femoral epiphysis Leukonychia Shortening of all phalanges of fingers Retinal dystrophy Hypertension Pneumonia Craniosynostosis Narrow chest Smooth philtrum Thin vermilion border Hypermetropia Central heterochromia



Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more

Other signs and symptoms that you may find interesting

Frontal bossing and Renal cell carcinoma, related diseases and genetic alterations