Intrauterine growth retardation, and Depressivity

Diseases related with Intrauterine growth retardation and Depressivity

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Depressivity that can help you solving undiagnosed cases.

Top matches:

Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

High match SHORT SYNDROME

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Other less relevant matches:

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

High match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

CAYLER CARDIOFACIAL SYNDROME Is also known as depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|asymmetric crying facies|acf

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CAYLER CARDIOFACIAL SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Depressivity

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Depressivity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Macrocephaly Deeply set eye Hypertelorism Growth delay Abnormal heart morphology Joint hyperflexibility Inguinal hernia Attention deficit hyperactivity disorder Motor delay Malar flattening Wide nasal bridge Sensorineural hearing impairment Low-set ears Failure to thrive Strabismus Generalized hypotonia Pointed chin Hearing impairment Underdeveloped nasal alae Hypoplasia of the corpus callosum Cerebral calcification Narrow mouth Short palm Choanal atresia Ventriculomegaly Obsessive-compulsive behavior Frontal bossing Bowing of the long bones Brachydactyly Cataract Micrognathia Hydrocephalus Depressed nasal bridge Neoplasm Clinodactyly of the 5th finger Highly arched eyebrow Truncus arteriosus Cleft palate High palate Toe syndactyly Short distal phalanx of finger Bulbous nose Ankyloglossia Behavioral abnormality Immunodeficiency Small for gestational age

Rare Symptoms - Less than 30% cases

Hernia Severe short stature Prominent forehead Alopecia Thin upper lip vermilion Hydronephrosis Intellectual disability, moderate Hyperlordosis Autism Midface retrusion Aggressive behavior Anxiety Abnormality of the dentition Pes planus Hyperactivity Blepharophimosis Delayed speech and language development Anteverted nares Patent ductus arteriosus Long philtrum Diabetes mellitus Joint laxity Recurrent respiratory infections Wide anterior fontanel Abnormality of the nervous system Posteriorly rotated ears Agenesis of corpus callosum Microphthalmia Hypertonia Epicanthus Visual impairment Flexion contracture Spasticity Short foot Muscular hypotonia Congenital hip dislocation Atrial septal defect Increased body weight Insulin resistance Microdontia Coarctation of aorta Triangular face Hypodontia Downturned corners of mouth Vesicoureteral reflux Joint hypermobility Ventricular septal defect Protruding ear Insulin-resistant diabetes mellitus Hip dislocation Prominent nasal bridge Pulmonary fibrosis Anemia Cerebellar atrophy Psychosis Thrombocytopenia Cerebellar hypoplasia Gliosis Postnatal growth retardation Decreased antibody level in blood Cognitive impairment Abnormality of cardiovascular system morphology Hepatomegaly Hyperreflexia Dysarthria Neurological speech impairment Corneal opacity Tremor Abnormality of the liver Dysphagia Body odor Schizophrenia Headache High, narrow palate Tics Ulnar deviation of finger Coxa valga Pyloric stenosis Recurrent urinary tract infections Bowel incontinence Premature birth Aortic aneurysm Long face Arachnodactyly Sandal gap Abnormality of earlobe Absent toenail Branchial fistula Smooth philtrum Facial asymmetry Absent fingernail Language impairment Aortic regurgitation Oculomotor apraxia Maternal hyperphenylalaninemia Delayed cranial suture closure Polydactyly Sleep disturbance Iris coloboma Facial palsy Tetralogy of Fallot Broad thumb Foot polydactyly Hand polydactyly Broad hallux High hypermetropia Transposition of the great arteries Autistic behavior Broad hallux phalanx Interrupted aortic arch Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Feeding difficulties Abnormal cardiac septum morphology Hemangioma Interphalangeal joint contracture of finger Mandibular aplasia Thoracic hypoplasia Mixed hearing impairment Natal tooth Protruding tongue Obstructive sleep apnea Osteopetrosis Choanal stenosis Generalized osteosclerosis Dermoid cyst Gingival fibromatosis Median cleft lip and palate Long hallux Brachyturricephaly Bilateral choanal atresia Renal hypoplasia Metaphyseal sclerosis Alveolar ridge overgrowth Craniofacial disproportion Microphakia Scoliosis Small face Cryptorchidism Talipes equinovarus Preauricular pit Cupped ear Congenital contracture Spina bifida occulta Spina bifida Preauricular skin tag Hypoplastic nasal bridge Blue irides Prenatal maternal abnormality J-shaped sella turcica Slender long bone Pericarditis Scaphocephaly Microglossia Myocardial fibrosis Iron deficiency anemia Scleroderma Prominent superficial veins Weak voice Fibroma Peripheral edema Hypoplastic left heart Absent frontal sinuses Malnutrition Spontaneous abortion Nephroblastoma Dry skin Vomiting Osteopenia Irritability Skin rash Pruritus Abnormality of the cerebral white matter Hypophosphatemia Eczema Pericardial constriction Nausea Asthma Delayed myelination Constrictive pericarditis Hypoplastic frontal sinuses High pitched voice Premature ovarian insufficiency Cardiomyopathy Generalized hypopigmentation Dolichocephaly Broad forehead Retinopathy Hepatosplenomegaly Camptodactyly of finger Fair hair Abnormal posturing Infertility Hypogonadism Mood changes Folate deficiency Congestive heart failure Hyperphenylalaninemia Edema Delayed puberty Astigmatism Cachexia Self-mutilation Reduced tendon reflexes Acanthosis nigricans Poor coordination Dental crowding Epidermal acanthosis Type II diabetes mellitus Pigmentary retinopathy Cirrhosis Overgrowth Cyanosis Growth hormone deficiency Nevus Abdominal distention Ascites Hydroureter Dermal atrophy Elevated alkaline phosphatase Frontotemporal dementia Mood swings Alcoholism Pseudohypoparathyroidism Orofacial dyskinesia Focal dystonia Calcinosis Abnormal lower motor neuron morphology Lewy bodies Progressive encephalopathy Limb dysmetria Bipolar affective disorder Basal ganglia calcification Abnormality of neuronal migration Mask-like facies Athetosis Emotional lability Oral-pharyngeal dysphagia Dysdiadochokinesis Subcutaneous hemorrhage Focal motor seizures Muscle stiffness Weight loss Bilateral sensorineural hearing impairment Abnormality of the skin Dental malocclusion Microcornea Delayed eruption of teeth Hypotrichosis Telecanthus Macrotia Glaucoma Micrographia Delayed skeletal maturation Clinodactyly Myopia Nystagmus Dense calcifications in the cerebellar dentate nucleus Calcification of the small brain vessels Pill-rolling tremor Progressive choreoathetosis Slurred speech Clumsiness Abnormality of the face Oral leukoplakia Dystonia Fatigue Gait disturbance Hypertension Pain Ataxia Esophageal stenosis Esophageal stricture Colitis Dementia Leukopenia Bone marrow hypocellularity Lymphopenia Nail dysplasia Abnormality of skin pigmentation Carious teeth Nail dystrophy Diarrhea Encephalopathy Gait ataxia Broad-based gait Parkinsonism Choreoathetosis Progressive neurologic deterioration Abnormality of extrapyramidal motor function Bradykinesia Neuronal loss in central nervous system Memory impairment Urinary incontinence Chorea Abnormal cerebellum morphology Rigidity Postural instability Dyskinesia Vertigo Dysmetria Abnormality of movement Abnormal pyramidal sign Paralysis Mental deterioration Thin skin Decreased body weight Abnormality of the genitourinary system Retrocerebellar cyst Respiratory distress Respiratory insufficiency Short neck Downslanted palpebral fissures Retinal nonattachment Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Retinal fold Pectus excavatum Aplasia cutis congenita of scalp Periventricular leukomalacia Corpus callosum atrophy Aplasia cutis congenita Short finger Cutis marmorata Cerebral palsy Narrow palpebral fissure Short nose Brachycephaly Lymphedema Macroglossia Sleep apnea Plagiocephaly Narrow palate Increased bone mineral density Gingival overgrowth Hypoplasia of dental enamel Large fontanelles Depressed nasal ridge Pulmonary hypoplasia Respiratory failure Micromelia Arthrogryposis multiplex congenita Wide mouth Apnea Retrognathia Mandibular prognathia Dyspnea Proptosis Low anterior hairline Blue sclerae Nephrocalcinosis Reduced subcutaneous adipose tissue Premature skin wrinkling Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Megalocornea Poor appetite Abnormality of the immune system Lipoatrophy Congenital glaucoma Dimple chin Glucose intolerance Hyperglycemia Radial deviation of finger Lipodystrophy Prominent supraorbital ridges Opacification of the corneal stroma Abnormality of dental enamel Short chin Abnormal pupil morphology Excessive wrinkled skin Small nail Cerebral atrophy Oligohydramnios Wide intermamillary distance Single transverse palmar crease Retinal detachment Polymicrogyria Congenital cataract Muscular hypotonia of the trunk Dilatation Syndactyly Abnormal anterior chamber morphology Optic atrophy Abnormality of the zygomatic bone Hypoplastic facial bones Birth length less than 3rd percentile Enlarged epiphyses Rieger anomaly Abnormality of the mandible Narrow naris Asymmetric crying face


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