Macrocephaly, and Abdominal distention

Diseases related with Macrocephaly and Abdominal distention

In the following list you will find some of the most common rare diseases related to Macrocephaly and Abdominal distention that can help you solving undiagnosed cases.

Top matches:

Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012).For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Myopia
  • Macrocephaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about FIBROCHONDROGENESIS 2; FBCG2

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

Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.

Related symptoms:

  • Short stature
  • Hypertelorism
  • Flexion contracture
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA

DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

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

Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.

PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE Is also known as platyspondylic dysplasia, torrance-luton type|thanatophoric dysplasia, torrance variant|lethal short-limbed platyspondylic dwarfism, torrance type|platyspondylic lethal skeletal dysplasia, torrance type|plsd-t

Related symptoms:

  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE

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

Medium match OPSISMODYSPLASIA

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

Top 5 symptoms//phenotypes associated to Macrocephaly and Abdominal distention

Symptoms // Phenotype % cases
Polyhydramnios Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Narrow chest Common - Between 50% and 80% cases
Protuberant abdomen Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Abdominal distention. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Short nose

Uncommon Symptoms - Between 30% and 50% cases

Micromelia

Common Symptoms - More than 50% cases

Long philtrum

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Frontal bossing

Uncommon Symptoms - Between 30% and 50% cases

Severe short stature Hydrops fetalis Skeletal dysplasia Short ribs Abnormality of cardiovascular system morphology Thickened nuchal skin fold Hypertelorism Flat face Aplasia/Hypoplasia of the lungs Umbilical hernia Thoracic hypoplasia Short thorax Short foot Lethal skeletal dysplasia Hypoplastic ischia Abnormal enchondral ossification Cystic hygroma Hypoplastic ilia Short palm Inguinal hernia Femoral hernia Short stature Edema Disproportionate short-limb short stature Short long bone Low-set ears Hypoplastic pubic bone Metaphyseal cupping Depressed nasal bridge Malar flattening Platyspondyly Cleft palate

Rare Symptoms - Less than 30% cases

Disproportionate short-trunk short stature Metaphyseal irregularity Hypoplastic scapulae Disproportionate short stature Thin ribs Respiratory failure Abnormally ossified vertebrae Hepatomegaly Splenomegaly Limb undergrowth Abnormality of metabolism/homeostasis Wide nasal bridge Genu varum Flat acetabular roof Generalized hypotonia Neonatal short-limb short stature Severe platyspondyly Bell-shaped thorax Coarse facial features Prominent forehead Respiratory insufficiency Wide anterior fontanel Cognitive impairment Attention deficit hyperactivity disorder Developmental regression Disc-like vertebral bodies Abnormality of the carpal bones Synophrys Smooth philtrum Joint hypermobility High, narrow palate Macroglossia Memory impairment Low posterior hairline Hoarse voice Elevated hepatic transaminase Hepatosplenomegaly Decreased cranial base ossification Thin upper lip vermilion Pain Hyperactivity Abdominal pain Severe limb shortening Seizures Intellectual disability, mild Epicanthus Sleep apnea High palate Global developmental delay Scoliosis Abnormal facial shape Generalized hirsutism Hearing impairment Hyperkinesis Relative macrocephaly Short metacarpal Blue sclerae Abnormality of the metaphysis Broad thumb Large fontanelles Abnormality of epiphysis morphology Rhizomelia Recurrent pneumonia Prominent supraorbital ridges Abnormality of the abdominal wall Flat occiput Hypophosphatemia Delayed epiphyseal ossification Renal phosphate wasting Hypoplastic vertebral bodies Vertebral hypoplasia Anterior rib cupping Squared iliac bones Tapered finger Wide mouth Cholelithiasis Prolonged prothrombin time 2-3 toe syndactyly Hypoplastic nipples Episodic abdominal pain Dysostosis multiplex Upper airway obstruction Prolonged partial thromboplastin time Periorbital fullness Abnormality of the mitochondrion Long hallux Joint stiffness Spinal deformities Expressive language delay Muscular hypotonia Brachydactyly Pectus excavatum Delayed skeletal maturation Recurrent respiratory infections Respiratory tract infection Small hand Proptosis Hypoplasia of the capital femoral epiphysis Toe syndactyly Abnormality of the epididymis Pseudoepiphyses of hand bones Vomiting Diarrhea Syndactyly Acidosis Abnormality of the liver Anal atresia Delayed pubic bone ossification Single transverse palmar crease Metabolic acidosis Bifid uvula Intestinal malrotation Gastrointestinal hemorrhage Choanal atresia Abnormal intestine morphology Enchondroma Enlarged epiphyses Hyponatremia Multiple rib fractures Myopia Midface retrusion High myopia Metaphyseal widening Cupped ribs Postaxial hand polydactyly Recurrent fractures Breech presentation Pseudoepiphyses Abnormality of bone mineral density Absent or minimally ossified vertebral bodies Flexion contracture Genu valgum Coxa vara Metaphyseal dysplasia Stiff neck Cutis laxa Keratitis Hypoplastic pelvis Beaded ribs Protruding tongue Short clavicles Upper limb undergrowth Barrel-shaped chest Decreased skull ossification Multiple epiphyseal dysplasia Broad clavicles Unossified vertebral bodies Growth abnormality Abnormal foot bone ossification Abnormal hand bone ossification Abnormality of the femoral metaphysis Pulmonary hypoplasia Short distal phalanx of finger Bowing of the long bones Flared metaphysis Epiphyseal dysplasia Hypoplasia of the radius Preauricular pit Protracted diarrhea Mild short stature Abnormality of digit Corneal erosion Optic nerve coloboma Rectovaginal fistula Villous atrophy Ureteral duplication Secretory diarrhea Short chin Intractable diarrhea Abnormality of the skeletal system Talipes equinovarus Hernia Corneal opacity Premature birth Abnormality of the ribs Posterior rib cupping


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