Micrognathia, and Narrow chest

Diseases related with Micrognathia and Narrow chest

In the following list you will find some of the most common rare diseases related to Micrognathia and Narrow chest that can help you solving undiagnosed cases.

Top matches:

Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Cleft palate
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 9; NEM9

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

Other less relevant matches:

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

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

Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.

ATELOSTEOGENESIS TYPE II Is also known as ao2|de la chapelle dysplasia|atelosteogenesis type 2|neonatal osseous dysplasia i|neonatal osseous dysplasia type 1|aoii

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE II

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about TYPICAL NEMALINE MYOPATHY

Top 5 symptoms//phenotypes associated to Micrognathia and Narrow chest

Symptoms // Phenotype % cases
Micromelia Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Flat face Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Narrow chest. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Severe short stature Frontal bossing Polyhydramnios Umbilical hernia Abnormal enchondral ossification Anteverted nares Short nose Long philtrum Abnormality of cardiovascular system morphology Talipes equinovarus Hydrops fetalis Macrocephaly Cystic hygroma Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Lethal skeletal dysplasia Femoral hernia Abdominal distention Thoracic hypoplasia Malar flattening Short thorax Scoliosis High palate Midface retrusion

Rare Symptoms - Less than 30% cases

Kyphosis Myopathy Narrow mouth Arthrogryposis multiplex congenita Hyperlordosis Breech presentation Talipes Short foot Disproportionate short-limb short stature Neonatal short-limb short stature Flexion contracture Inguinal hernia Skeletal dysplasia Pulmonary hypoplasia Cryptorchidism Wide nasal bridge Cutaneous syndactyly Cupped ear Bilateral talipes equinovarus Generalized hirsutism Long fingers Fatigable weakness of respiratory muscles Prominent metopic ridge Overfolded helix Hirsutism Wide anterior fontanel Syndactyly Global developmental delay Hearing impairment Hypertelorism Abnormal facial shape Low-set ears Delayed speech and language development Cerebellar hypoplasia Choanal atresia Brachycephaly Gastroesophageal reflux Craniosynostosis Microtia Short philtrum Anal atresia Underdeveloped nasal alae Short clavicles Genu valgum Broad neck Neck flexor weakness Facial palsy Neonatal hypotonia Waddling gait Narrow face Foot dorsiflexor weakness Genu varum Increased variability in muscle fiber diameter Hypokinesia Spinal rigidity Facial diplegia Nemaline bodies Limb-girdle muscle weakness Elevated serum creatine phosphokinase Type 1 muscle fiber predominance Hyporeflexia Short columella Axial muscle weakness Nocturnal hypoventilation Horizontal sacrum Fatiguable weakness of proximal limb muscles Pectus excavatum Gait disturbance Feeding difficulties Ptosis Upper eyelid coloboma Median cleft palate Velopharyngeal insufficiency Hip dislocation Widow's peak Asplenia Dumbbell-shaped femur Calvarial skull defect Short sacroiliac notch Femoral bowing Edema Multiple rib fractures Recurrent fractures Short palm Postaxial hand polydactyly Disproportionate short stature Abnormality of the ribs Dumbbell-shaped long bone Upper airway obstruction Short femur Hypoplastic scapulae Glossoptosis Metaphyseal widening Hypoplastic ilia Rhizomelia High myopia Premature birth Proptosis Brachydactyly Sensorineural hearing impairment Progressive distal muscle weakness Fetal akinesia sequence Akinesia Distal muscle weakness Ventricular septal defect Motor delay Muscle weakness Short ribs Abnormality of bone mineral density Tracheobronchomalacia Respiratory failure Cervical kyphosis Aplasia/hypoplasia of the extremities Mesomelic short stature Laryngeal stenosis Coronal cleft vertebrae Flat acetabular roof Upper limb undergrowth Hypoplasia of the ulna Short middle phalanx of finger Patent foramen ovale Sandal gap Lumbar hyperlordosis Platyspondyly Abnormality of metabolism/homeostasis Absent or minimally ossified vertebral bodies Depressed nasal bridge Anisospondyly Abnormality of the abdominal wall Abnormality of pelvic girdle bone morphology Short long bone Bowing of the long bones Abnormality of the metaphysis Depressed nasal ridge Blue sclerae Overgrowth Joint stiffness Posteriorly rotated ears Atrial septal defect Fatigable weakness of distal limb muscles


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