Edema, and Long philtrum

Diseases related with Edema and Long philtrum

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

Top 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 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

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

Other less relevant matches:

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

Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.

NEK9-RELATED LETHAL SKELETAL DYSPLASIA Is also known as lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • High palate
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEK9-RELATED LETHAL SKELETAL DYSPLASIA

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

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

Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

Top 5 symptoms//phenotypes associated to Edema and Long philtrum

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
Flat face Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Short nose Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hydrops fetalis

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly

Common Symptoms - More than 50% cases

Narrow chest

Uncommon Symptoms - Between 30% and 50% cases

Thickened nuchal skin fold Abnormal enchondral ossification Cystic hygroma Umbilical hernia Micromelia Lethal skeletal dysplasia Polyhydramnios Abnormality of cardiovascular system morphology Talipes equinovarus Frontal bossing Aplasia/Hypoplasia of the lungs Intellectual disability Seizures High palate Short thorax Femoral hernia Severe short stature Abdominal distention Global developmental delay Short stature Generalized hypotonia Microcephaly Short foot

Rare Symptoms - Less than 30% cases

Abnormal facial shape Flexion contracture Intrauterine growth retardation Thoracic scoliosis Hypertelorism Strabismus Epicanthus Delayed speech and language development Depressed nasal bridge Downslanted palpebral fissures Hypoplasia of the corpus callosum Narrow mouth Proptosis Broad forehead Downturned corners of mouth Ataxia Low-set ears Cerebellar atrophy Cerebellar hypoplasia Encephalopathy Neonatal hypotonia Gastroesophageal reflux Scoliosis Disproportionate short stature Ptosis Inguinal hernia Skeletal dysplasia Thoracic hypoplasia Short ribs Abnormality of the ribs Abnormality of the skeletal system Hernia Cleft palate Segmental myoclonic seizures Nonprogressive cerebellar ataxia Respiratory failure Hypoplastic hippocampus Hippocampal atrophy Short ear Mesiodens Narrow nasal tip Corneal opacity Poor motor coordination Abnormal social behavior Kyphosis Impaired social interactions Positive Romberg sign Generalized myoclonic seizures Autistic behavior Abnormal pyramidal sign Dysmetria Unsteady gait Long face Bulbous nose Wide nose Broad nasal tip Memory impairment Abnormal cortical gyration Intention tremor Thick lower lip vermilion Depressed nasal ridge Pointed chin Infantile muscular hypotonia Brisk reflexes Palpebral edema Large forehead Premature birth Short chin Limb undergrowth Full cheeks Hyperreflexia Optic atrophy Cerebral atrophy Brachycephaly Macrotia Muscular hypotonia of the trunk Dyskinesia High, narrow palate Underdeveloped nasal alae Spasticity Hypsarrhythmia Decreased body weight Progressive microcephaly Elbow flexion contracture Poor head control Hypoplasia of the brainstem Long palpebral fissure Progressive encephalopathy Hypoplasia of the pons Visual impairment Hearing impairment Aggressive behavior Barrel-shaped chest Hypoplasia of the radius Growth abnormality Epiphyseal dysplasia Thin ribs Protruding tongue Short clavicles Protuberant abdomen Upper limb undergrowth Hypoplastic scapulae Abnormality of the femoral metaphysis Decreased skull ossification Disproportionate short-trunk short stature Multiple epiphyseal dysplasia Hypoplastic ischia Broad clavicles Beaded ribs Unossified vertebral bodies Abnormal foot bone ossification Abnormal hand bone ossification Protruding ear Cerebral cortical atrophy Postaxial hand polydactyly Omphalocele Generalized limb muscle atrophy Chronic lactic acidosis Anemia Ventricular septal defect Pulmonary hypoplasia Oligohydramnios Cardiomegaly Narrow palate Cytochrome C oxidase-negative muscle fibers Torticollis Adducted thumb Akinesia Femoral bowing Muscular hypotonia Fetal akinesia sequence Overlapping fingers Broad ribs Erythroid hyperplasia Hypochromic anemia Stiff neck Increased serum lactate Myopathy Myoclonus Glaucoma Acidosis Pallor Stroke Delayed puberty Lactic acidosis Progressive muscle weakness Sideroblastic anemia EMG abnormality Exercise intolerance Ragged-red muscle fibers Microcytic anemia Increased serum ferritin Mitochondrial myopathy Stroke-like episode Distichiasis Hypoplasia of the thymus Overriding aorta Deeply set eye Nystagmus Bilateral ptosis Language impairment Vertebral fusion Delayed ability to walk Abnormal myelination Unilateral cryptorchidism Recurrent fractures Short palm Multiple rib fractures Dysarthria Tremor Intellectual disability, mild Constipation Disproportionate short-limb short stature Hyperactivity Abnormality of metabolism/homeostasis Gait ataxia Round face Joint hypermobility Muscle weakness Hypoplastic ilia Failure to thrive Growth delay Absent or minimally ossified vertebral bodies Abnormality of bone mineral density Neonatal short-limb short stature Cryptorchidism Feeding difficulties Breech presentation Wide nasal bridge Abnormality of the cerebral white matter Agenesis of corpus callosum Malar flattening Camptodactyly Abnormality of the pinna Wide mouth Blepharophimosis Short philtrum Respiratory insufficiency Pontocerebellar atrophy


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