Frontal bossing, and Long philtrum

Diseases related with Frontal bossing and Long philtrum

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

Top matches:

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

Related symptoms:

  • Short stature
  • Frontal bossing
  • Anteverted nares
  • Short neck
  • Long philtrum


SOURCES: OMIM MESH MENDELIAN

More info about THREE M SYNDROME 2; 3M2

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:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Abnormality of the skeletal system
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about THREE M SYNDROME 3; 3M3

Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 2 Is also known as achondrogenesis, langer-saldino type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 2

Other less relevant matches:

Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1B Is also known as achondrogenesis, parenti-fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Talipes equinovarus
  • Anteverted nares


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1B

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1A

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

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

Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

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

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Frontal bossing and Long philtrum

Symptoms // Phenotype % cases
Anteverted nares Common - Between 50% and 80% cases
Short nose Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Narrow chest Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Abnormality of cardiovascular system morphology Short thorax Abnormal enchondral ossification Cystic hygroma Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Hydrops fetalis Umbilical hernia Severe short stature Polyhydramnios Hypertelorism Micromelia Flat face Malar flattening Abdominal distention Femoral hernia Depressed nasal bridge Lethal skeletal dysplasia Midface retrusion

Rare Symptoms - Less than 30% cases

Disproportionate short-limb short stature Short foot Short palm Recurrent fractures Global developmental delay Skeletal dysplasia Short stature Abnormality of the ribs Downslanted palpebral fissures Triangular face Pointed chin Hyperlordosis Dolichocephaly Slender long bone Protruding ear Abnormality of the skeletal system Elbow ankylosis Narrow pelvis bone Abnormal renal morphology Respiratory insufficiency Hypoplasia of the zygomatic bone Edema Inguinal hernia Short ribs Turricephaly Femoral bowing Underdeveloped supraorbital ridges Breech presentation Delayed cranial suture closure Choanal atresia Arachnodactyly Talipes Camptodactyly of finger Craniosynostosis Joint stiffness Low-set, posteriorly rotated ears Proptosis Narrow mouth Brachycephaly Hypoplastic ilia Lactic acidosis Neonatal short-limb short stature Microphthalmia Sparse hair Bulbous nose Metabolic acidosis Delayed myelination Underdeveloped nasal alae Aciduria High forehead Postnatal microcephaly Cleft palate Acidosis Infantile muscular hypotonia Dystonia Abnormality of bone mineral density Tented upper lip vermilion Hypoplasia of the corpus callosum Epicanthus Feeding difficulties High palate Cataract Muscular hypotonia Abnormal facial shape Microcephaly Generalized hypotonia Hepatic failure Absent or minimally ossified vertebral bodies Postnatal macrocephaly Strabismus Disproportionate short stature Hepatosplenomegaly Autism Pneumonia Obesity Recurrent infections Immunodeficiency Fever Neoplasm Intellectual disability Multiple rib fractures Talipes equinovarus Attention deficit hyperactivity disorder Thoracic hypoplasia Postaxial hand polydactyly Increased vertebral height Hip dysplasia Small for gestational age Clinodactyly Growth delay Prominent calcaneus Prominent nasal tip Scapular winging Thick vermilion border Autistic behavior Broad forehead Limited elbow flexion/extension Hypoplasia of penis Hypoplastic distal humeri Rhizomelic arm shortening Bifid nasal tip Large forehead Short 1st metacarpal Patellar dislocation Short humerus Dislocated radial head Bifid scrotum Elbow dislocation Rhizomelia Ambiguous genitalia Lymphadenopathy Hypoplasia of the maxilla Micropenis Hypospadias Cryptorchidism Increased head circumference Severe combined immunodeficiency Biparietal narrowing Combined immunodeficiency Lymphopenia Pancytopenia Decreased antibody level in blood Adducted thumb


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