Frontal bossing, and Growth hormone deficiency

Diseases related with Frontal bossing and Growth hormone deficiency

In the following list you will find some of the most common rare diseases related to Frontal bossing and Growth hormone deficiency 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

Isolated growth hormone deficiency type V is characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary (Argente et al., 2014).

ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA Is also known as congenital ighd type ia|congenital isolated growth hormone deficiency type ia|congenital isolated gh deficiency type ia

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Frontal bossing
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA

Other less relevant matches:

Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

High match IMAGE SYNDROME

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTONIA-CYSTINURIA SYNDROME

High match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

Top 5 symptoms//phenotypes associated to Frontal bossing and Growth hormone deficiency

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Delayed skeletal maturation Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Growth hormone deficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Severe short stature Obesity Truncal obesity Cryptorchidism Depressed nasal bridge Hypogonadism Micropenis Cleft palate Failure to thrive Generalized hypotonia Anteverted nares Abnormal facial shape

Rare Symptoms - Less than 30% cases

Respiratory tract infection Muscular hypotonia Feeding difficulties Delayed puberty Intrauterine growth retardation Macrocephaly Epicanthus Prominent forehead Small for gestational age Hydronephrosis Muscle weakness Cognitive impairment Hypocalcemia Downslanted palpebral fissures Midface retrusion Neonatal hypotonia Long eyelashes High forehead Hyperlordosis Retrognathia Scoliosis Craniosynostosis Short nose Hearing impairment Posteriorly rotated ears Nystagmus Motor delay Ptosis Hypothyroidism Postnatal growth retardation Microcephaly Hypertelorism Ataxia Narrow palate Proportionate short stature Micrognathia Abnormality of the skin Delayed eruption of teeth Nephrolithiasis Apnea Decreased fetal movement Narrow chest Carious teeth Short distal phalanx of finger Recurrent fractures Prominent nose Abnormal vertebral morphology Abnormality of epiphysis morphology Postural instability Abnormality of the face Small nail Blue sclerae Arthrogryposis multiplex congenita Hypodontia Hypoplasia of the maxilla Lactic acidosis Skeletal dysplasia Hepatosplenomegaly Severe muscular hypotonia Pain Hepatomegaly Cystinuria Severe failure to thrive Neonatal hypoglycemia Short toe Central hypotonia Polyphagia Abnormality of mitochondrial metabolism Nasal speech Tented upper lip vermilion Brachydactyly Anemia Abnormality of the skeletal system Hydrocephalus Abnormality of the dentition Splenomegaly Kyphosis Malar flattening Increased body weight Osteoporosis Brachycephaly Proptosis Hypergonadotropic hypogonadism Bone pain Osteolytic defects of the phalanges of the hand Increased bone mineral density Depressed nasal ridge Hernia Recurrent respiratory infections Gastroesophageal reflux Umbilical hernia Conductive hearing impairment Microtia Thick vermilion border Single transverse palmar crease Delayed myelination Underdeveloped nasal alae Hip dysplasia Lumbar hyperlordosis Microretrognathia Strabismus Sandal gap Laryngomalacia Short middle phalanx of finger Emphysema Cortical gyral simplification Tracheomalacia Stenosis of the external auditory canal Hypoplastic labia majora Patellar aplasia Entropion Bronchomalacia Subglottic stenosis Tracheobronchomalacia Delayed speech and language development Abnormal pelvis bone ossification Abnormality of the nail Abnormality of the clavicle Wormian bones Abnormality of the fingernails Osteolysis Sleep apnea Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Back pain Abnormality of the thorax Abnormality of dental morphology Osteomyelitis Prominent occiput Agenesis of permanent teeth Abnormality of the vertebral column Osteopetrosis Persistent open anterior fontanelle Feeding difficulties in infancy Spondylolisthesis Ridged nail Small face Low back pain Abnormal pattern of respiration Persistence of primary teeth Delayed eruption of permanent teeth Delayed eruption of primary teeth Absent frontal sinuses Snoring Spondylolysis Osteolytic defects of the distal phalanges of the hand Dolichocephaly Short palpebral fissure Facial palsy Alopecia Hypercalcemia Epiphyseal dysplasia Bilateral cryptorchidism Adrenal insufficiency Metaphyseal dysplasia Primary adrenal insufficiency Adrenal hypoplasia Metaphyseal cupping Congenital adrenal hypoplasia Peripheral neuropathy Cerebellar atrophy Rod-cone dystrophy Short long bone Gait ataxia Hypoglycemia Pallor Sparse hair Distal muscle weakness Spastic paraplegia Paraplegia Peripheral axonal neuropathy Retinal degeneration Distal amyotrophy Thick eyebrow Progressive cerebellar ataxia Hypercalciuria Nephrocalcinosis Hypoplasia of penis Cone/cone-rod dystrophy Atherosclerosis Precocious atherosclerosis Abdominal obesity Oligomenorrhea Severe postnatal growth retardation Mild microcephaly Recurrent infections Cerebellar hypoplasia Cleft lip Apraxia Oculomotor apraxia Tachypnea Recurrent upper respiratory tract infections Abnormality of the genital system Bilateral ptosis Molar tooth sign on MRI Panhypopituitarism Central hypothyroidism Ectopic posterior pituitary Inferior vermis hypoplasia Sensorineural hearing impairment Low-set ears Hypospadias Muscular dystrophy Micromelia Bilateral sensorineural hearing impairment Pigmentary retinopathy Sparse scalp hair Intellectual disability, moderate Inverted nipples Smooth philtrum Renal cyst Triangular face Mitral valve prolapse Coarctation of aorta Renal dysplasia Pointed chin Deep philtrum Flat occiput Hypoplastic left heart Delayed ability to walk Low hanging columella Poor speech Mitral stenosis Gastrointestinal dysmotility Broad columella Oval face Narrow philtrum Infra-orbital crease Seizures Fatigue Intellectual disability, severe Areflexia Acidosis Macrotia Talipes Hypermetropia Clumsiness Central heterochromia Gynecomastia Horizontal nystagmus Hypogonadotrophic hypogonadism Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Recurrent hypoglycemia Titubation Alopecia areata Choroideremia Long eyebrows Wide nasal bridge Wide mouth Talipes equinovarus Ventriculomegaly Respiratory insufficiency Hypoplasia of the corpus callosum Patent ductus arteriosus Abnormal heart morphology Agenesis of corpus callosum Upslanted palpebral fissure Coarse facial features Pes planus Telecanthus Abnormality of the pinna Nasogastric tube feeding


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