Abnormal facial shape, and Abnormality of the ribs

Diseases related with Abnormal facial shape and Abnormality of the ribs

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Abnormality of the ribs that can help you solving undiagnosed cases.


Top matches:

Low match CRANIODIAPHYSEAL DYSPLASIA


Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Depressed nasal bridge
  • Wide nasal bridge
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE


Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE Is also known as semd, matrilin-3 type|semd, matn3-related

Related symptoms:

  • Short stature
  • Pectus excavatum
  • Severe short stature
  • Hyperlordosis
  • Platyspondyly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE

Low match OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8


Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.

OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8 Is also known as oi, type viii

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Kyphosis
  • Inguinal hernia


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8

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Other less relevant matches:

Low match COLE-CARPENTER SYNDROME 2; CLCRP2


Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Low match EXOSTOSES, MULTIPLE, TYPE I


Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent (Peterson, 1989).Two conditions in which multiple exostoses occur are metachondromatosis (OMIM ) and the Langer-Giedion syndrome (LGS ); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP ), occipital horn syndrome (OMIM ), and the adult stage of hereditary hypophosphatemia (see {307800}); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent (Silverman, 1985).

EXOSTOSES, MULTIPLE, TYPE I Is also known as multiple cartilaginous exostoses|ext1|multiple osteochondromas|diaphyseal aclasis|ext|osteochondromatosis

Related symptoms:

  • Short stature
  • Neoplasm
  • Depressivity
  • Abnormality of the foot
  • Genu valgum


SOURCES: OMIM MENDELIAN

More info about EXOSTOSES, MULTIPLE, TYPE I

Low match ACHONDROGENESIS TYPE 1B


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

Low match SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Strabismus
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION

Low match MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA


MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA

Low match ACHONDROGENESIS TYPE 1A


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

Low match ACHONDROGENESIS, TYPE IB; ACG1B


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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of the ribs

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Flat face Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Abnormality of the ribs. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Narrow chest Micromelia Severe short stature Intellectual disability Cystic hygroma Recurrent fractures Short metacarpal Abnormal enchondral ossification Aplasia/Hypoplasia of the lungs Thickened nuchal skin fold Platyspondyly Short thorax Umbilical hernia Polyhydramnios Abnormality of cardiovascular system morphology Long philtrum Anteverted nares Short neck Hydrops fetalis Short nose

Rare Symptoms - Less than 30% cases


Blue sclerae Kyphosis Inguinal hernia Proptosis Triangular face Hypoplasia of the radius Wormian bones Delayed skeletal maturation Thin ribs Microcephaly Decreased skull ossification Femoral hernia Lethal skeletal dysplasia Global developmental delay Short foot Growth delay Osteopenia Disproportionate short-limb short stature Abdominal distention Narrow iliac wings Pectus excavatum Fibular hypoplasia Breech presentation Patellar aplasia Short palm Multiple rib fractures Respiratory insufficiency Edema Malar flattening Skeletal dysplasia Short ribs Hypoplastic ilia Neonatal short-limb short stature Talipes equinovarus Abnormality of bone mineral density Madelung-like forearm deformities Protuberances at ends of long bones Peripheral nerve compression Scapular exostoses Rib exostoses Enchondroma Pelvic bone exostoses Osteochondroma Cervical myelopathy Multiple exostoses Disproportionate short stature Cortical gyral simplification Dislocated radial head Intellectual disability, mild Aplasia/Hypoplasia of the radius Short tibia Short femur Absent thumb Madelung deformity Hypoplasia of the ulna Patellar hypoplasia Supernumerary ribs Bilateral ulnar hypoplasia Brachydactyly Intrauterine growth retardation Thin vermilion border Oligodactyly Clinodactyly Narrow mouth Micropenis Clinodactyly of the 5th finger Intellectual disability, severe Cryptorchidism Upslanted palpebral fissure Convex nasal ridge Strabismus Finger clinodactyly Radioulnar synostosis Mesomelia Chondrosarcoma Lambdoidal craniosynostosis Osteosarcoma Small epiphyses Thoracic hypoplasia Limited elbow extension Flat acetabular roof Ovoid vertebral bodies Spondyloepimetaphyseal dysplasia Enlarged joints Irregular epiphyses Metaphyseal widening Hypoplastic pubic bone Posterior rib cupping Metaphyseal spurs Dysplastic iliac wings Scoliosis Osteoporosis Joint laxity Bowing of the legs Short long bone Wide anterior fontanel Stenosis of the external auditory canal Depressed nasal bridge Wide nasal bridge Optic atrophy Coarse facial features Conductive hearing impairment Hyperostosis Flared metaphysis Craniofacial hyperostosis Lumbar hyperlordosis Diaphyseal thickening Diaphyseal sclerosis Diaphyseal dysplasia Facial hyperostosis Hyperlordosis Waddling gait Limb undergrowth Round face Increased susceptibility to fractures Exostoses Depressivity Microretrognathia Reduced bone mineral density High pitched voice Turricephaly Coronal craniosynostosis Fractures of the long bones Neoplasm Abnormality of the foot Craniosynostosis Genu valgum Coxa vara Hemangioma Sarcoma Hypophosphatemia Short finger Pathologic fracture Oligohydramnios Postnatal growth retardation Delayed cranial suture closure Externally rotated/abducted legs Femoral bowing Tibial bowing Slender long bone Radial bowing Barrel-shaped chest Vertebral compression fractures Multiple prenatal fractures Type 1 collagen overmodification Retrognathia Hypertelorism High palate Motor delay Downslanted palpebral fissures Ventriculomegaly Hydrocephalus Midface retrusion Absent or minimally ossified vertebral bodies



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