Growth delay, and Wide intermamillary distance

Diseases related with Growth delay and Wide intermamillary distance

In the following list you will find some of the most common rare diseases related to Growth delay and Wide intermamillary distance that can help you solving undiagnosed cases.

Top matches:

Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Is also known as sed, maroteaux type|brachyolmia, maroteaux type|pseudo-morquio syndrome type 2|pseudo-morquio syndrome, type 2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Intellectual disability, mild
  • Pectus excavatum
  • Clinodactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE

NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF ) (summary by Coelho et al., 2012).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblj|methylmalonic aciduria with homocystinuria, type cblj|cblj defects|cobalamin j defect

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ

Top 5 symptoms//phenotypes associated to Growth delay and Wide intermamillary distance

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Growth delay and Wide intermamillary distance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Generalized hypotonia Epicanthus Feeding difficulties Abnormal facial shape Depressed nasal bridge Micrognathia Low-set ears Delayed speech and language development Seizures Posteriorly rotated ears Atrial septal defect Downslanted palpebral fissures Hypoplasia of the corpus callosum Telecanthus Short neck Cleft palate

Rare Symptoms - Less than 30% cases

Midface retrusion Spasticity Blepharophimosis Ptosis Pectus excavatum Scoliosis Cerebral atrophy High palate Long philtrum Abnormality of the dentition Motor delay Narrow mouth Thin upper lip vermilion Micropenis Intellectual disability, severe Abnormality of the pinna Muscular hypotonia of the trunk Osteopenia Macrocephaly Failure to thrive Short palpebral fissure Webbed neck Malar flattening Cubitus valgus Pectus excavatum of inferior sternum Wide nasal bridge Congenital sensorineural hearing impairment Respiratory distress Thick lower lip vermilion Hearing impairment Dental malocclusion Pulmonic stenosis Low-set, posteriorly rotated ears Polyhydramnios Broad neck Highly arched eyebrow Aplasia/Hypoplasia of the nipples Superior pectus carinatum Bifid scrotum Telangiectasia of the skin Hypoplastic nipples Inguinal freckling Optic nerve glioma Prominent nasolabial fold Acute lymphoblastic leukemia Axillary freckling Decreased adenosylcobalamin Upslanted palpebral fissure Pes planus Microtia Carious teeth Flat face Short palm Tapered finger Microcornea Microdontia Scrotal hypoplasia Overfolded helix Ureterocele Muscle weakness Lisch nodules Leukemia Specific learning disability Low posterior hairline Cafe-au-lait spot Relative macrocephaly Neurofibromas Microphthalmia Cognitive impairment Chordee Freckling Multiple cafe-au-lait spots Hypospadias Secundum atrial septal defect Nystagmus Abnormal posturing Visual impairment Hypertension Agitation Opisthotonus Episodic fever Loss of speech Pendular nystagmus Severe lactic acidosis Primitive reflex Psychomotor deterioration Diffuse leukoencephalopathy Frontoparietal polymicrogyria Progressive leukoencephalopathy Anemia Thrombocytopenia Abnormality of mitochondrial metabolism Inguinal hernia Gastroesophageal reflux Lethargy Neutropenia Aciduria Coarctation of aorta Pulmonary arterial hypertension Tachypnea Bell-shaped thorax Methylmalonic aciduria Methylmalonic acidemia Horizontal ribs Hypoplasia of the brainstem Leukoencephalopathy Intrauterine growth retardation Irritability Optic atrophy Ventriculomegaly Edema Homocystinuria Myopathy Telangiectasia Recurrent infections Encephalopathy Respiratory failure Acidosis Retrognathia Developmental regression Abnormal pyramidal sign Spastic tetraparesis Arthrogryposis multiplex congenita Abnormality of the cerebral white matter Lactic acidosis Polymicrogyria Metabolic acidosis Tetraplegia Brain atrophy Spastic tetraplegia Tetraparesis Leukodystrophy Decreased methylcobalamin Hyperhomocystinemia Severe muscular hypotonia Abnormal dermatoglyphics Absence seizures Renal dysplasia Hyperactivity Breast hypoplasia Decreased testosterone in males Eunuchoid habitus Female hypogonadism Hypoplasia of the ovary Non-obstructive azoospermia Absence of pubertal development Abnormality of body height Increased female libido Strabismus Neonatal hypotonia Decreased serum testosterone level Prominent nasal bridge Synophrys Narrow chest Poor speech Thick eyebrow Hirsutism Single transverse palmar crease Prominent nose Underdeveloped nasal alae Dental crowding Absence of secondary sex characteristics Male hypogonadism Low anterior hairline Anxiety Intellectual disability, mild Clinodactyly Severe short stature Platyspondyly Small nail Metaphyseal irregularity Small epiphyses Depressivity Delayed skeletal maturation Osteoporosis Camptodactyly Generalized joint laxity Delayed puberty Decreased testicular size Primary amenorrhea Gynecomastia Hypogonadotrophic hypogonadism Azoospermia Abnormality of the voice Impotence Hypoplasia of the uterus Sparse body hair Secondary amenorrhea Long eyelashes Broad hallux Renal hypoplasia Cataract Round face Microretrognathia Widely spaced teeth Long nose Partial agenesis of the corpus callosum Prominent metopic ridge Bruxism Prominent nasal tip Long upper lip Sensorineural hearing impairment Myopia Downturned corners of mouth Renal insufficiency Hernia Hypothyroidism Umbilical hernia Proteinuria Intellectual disability, moderate Wide mouth Stage 5 chronic kidney disease Everted lower lip vermilion Hypoplasia of penis Pancytopenia Bifid uvula Wide nose Short columella Blue irides Unilateral cryptorchidism Curly eyelashes Ventricular septal defect Hypertrophic cardiomyopathy Sparse and thin eyebrow Sparse eyebrow Bilateral cryptorchidism Abnormality of coagulation Prolonged bleeding time Curly hair High anterior hairline Thin vermilion border Dystonia Short nose Absent speech Agenesis of corpus callosum Prominent forehead Deeply set eye Protruding ear Short philtrum Small for gestational age Neurological speech impairment Smooth philtrum Decreased methionine synthase activity


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