Frontal bossing, and Severe short stature

Diseases related with Frontal bossing and Severe short stature

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

Top matches:

IGHD type IV is an autosomal recessive disorder characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I (IGF1 ) and IGF-binding protein-3 (IGFBP3 ) concentrations, and a good response to growth hormone treatment (summary by Alatzoglou et al., 2014).For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see {262400}.

ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB Is also known as ighd1b, formerly|congenital isolated growth hormone deficiency type ib|congenital ighd type ib|congenital isolated gh deficiency type ib|dwarfism of sindh|isolated growth hormone deficiency, type ib, formerly

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Obesity
  • Delayed skeletal maturation


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB

Patients with IGHD type IB are characterized by low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to GH therapy.See entry {262400} for a summary of the different types of IGHD.

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B Is also known as dwarfism of sindh|ighd ib

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH OMIM MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B

Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.

SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME Is also known as deafness, congenital, with split hands and feet

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Frontal bossing


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

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

Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS TYPE III

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

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

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

Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

Top 5 symptoms//phenotypes associated to Frontal bossing and Severe short stature

Symptoms // Phenotype % cases
Anteverted nares Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Long philtrum Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Severe short stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Malar flattening Short nose Short thorax Depressed nasal bridge Polyhydramnios Macrocephaly Abnormality of cardiovascular system morphology Flat face Umbilical hernia Narrow chest Micromelia Hydrops fetalis Cystic hygroma Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Growth delay Skeletal dysplasia Talipes equinovarus Abnormal enchondral ossification Delayed skeletal maturation

Rare Symptoms - Less than 30% cases

Short palm Disproportionate short-limb short stature Abdominal distention Scoliosis Short ribs Proportionate short stature Truncal obesity Lethal skeletal dysplasia Femoral hernia Growth hormone deficiency Obesity Hypoplasia of the maxilla Rhizomelia Elbow dislocation Small for gestational age Abnormality of the skeletal system Hitchhiker thumb Hypospadias Short foot Patellar dislocation Hypoplasia of penis Short 1st metacarpal Ambiguous genitalia Bifid scrotum Dislocated radial head Rhizomelic arm shortening Short humerus Cryptorchidism Large forehead Bifid nasal tip Hypertelorism Multiple rib fractures Micropenis Microcephaly Hypoplastic distal humeri Hip dislocation Hypoplastic pelvis Short 5th finger Slender long bone Spina bifida occulta Scapular winging Coxa vara Pointed chin Decreased testicular size Triangular face Thick eyebrow Joint hypermobility Dolichocephaly Hyperlordosis Limited elbow flexion/extension Pes planus Mandibular prognathia Clinodactyly of the 5th finger Pectus excavatum Intrauterine growth retardation Absent or minimally ossified vertebral bodies Abnormality of bone mineral density Neonatal short-limb short stature Breech presentation Hypoplastic ilia Inguinal hernia Edema Respiratory insufficiency Flat acetabular roof Recurrent fractures Talipes Split foot Moderate hearing impairment Anisopoikilocytosis Spotty hypopigmentation Profound global developmental delay Hypopigmented skin patches Sparse and thin eyebrow Hypopigmentation of the skin Short distal phalanx of finger Sparse hair Low anterior hairline Telecanthus Osteopenia High forehead Proptosis Recurrent infections Aplasia of the 2nd finger Brachydactyly Global developmental delay Anemia Abnormality of the nail Split hand Tombstone-shaped proximal phalanges Sandal gap Widened distal phalanges Cervical segmentation defect Horizontal sacrum Cervical kyphosis Knee dislocation Abnormal facial shape Radial bowing Tibial bowing Prominent occiput Midface retrusion Tapered finger Cleft palate Disproportionate short stature Atherosclerosis Precocious atherosclerosis Abdominal obesity Abnormality of the ribs Hearing impairment Sensorineural hearing impairment Clinodactyly Synophrys Increased vertebral height


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