Intrauterine growth retardation, and Sparse scalp hair

Diseases related with Intrauterine growth retardation and Sparse scalp hair

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

Top matches:

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

High match SECKEL SYNDROME

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

Other less relevant matches:

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

BARTSOCAS-PAPAS SYNDROME Is also known as pterygium, popliteal, lethal type|autosomal recessive popliteal pterygium syndrome|bps|lethal popliteal pterygium syndrome|multiple pterygium syndrome, aslan type|bartsocas-papas syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BARTSOCAS-PAPAS SYNDROME

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

High match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Sparse scalp hair

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Delayed skeletal maturation

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Anteverted nares Abnormality of cardiovascular system morphology Failure to thrive Coarse facial features Wide mouth Micrognathia Dandy-Walker malformation Scoliosis Cryptorchidism Sandal gap Long eyelashes Wide nose Hearing impairment Long philtrum Depressed nasal bridge Sparse hair Thick eyebrow Abnormal facial shape Cognitive impairment Clinodactyly of the 5th finger Broad nasal tip Wide intermamillary distance Downslanted palpebral fissures Narrow palpebral fissure Alopecia Obesity Short nose Postnatal growth retardation Cafe-au-lait spot High palate Delayed eruption of teeth Severe short stature Short distal phalanx of finger Hernia Absent speech Muscular hypotonia Motor delay Abnormal corpus callosum morphology Thick nasal alae Hypoplasia of the corpus callosum Atrial septal defect Thick lower lip vermilion Pectus excavatum Thin upper lip vermilion Abnormal heart morphology Intellectual disability, severe Small for gestational age Small nail

Rare Symptoms - Less than 30% cases

Short palpebral fissure Synophrys Malabsorption Short phalanx of finger Underdeveloped nasal alae Hypoplasia of the maxilla Hypotrichosis Finger clinodactyly Smooth philtrum Thin vermilion border Wormian bones Visual impairment Pterygium Anxiety Delayed speech and language development Brachydactyly Clinodactyly Osteoporosis Brachycephaly Joint laxity Retrognathia Deeply set eye Anal stenosis Absent eyebrow Aggressive behavior Facial cleft Multiple cafe-au-lait spots Truncal obesity Small hand Short foot Mask-like facies Single transverse palmar crease Short palm Upslanted palpebral fissure High, narrow palate Widely spaced teeth Abnormal hair pattern Convex nasal ridge Hip dysplasia Joint hyperflexibility Joint dislocation Accelerated skeletal maturation Hypoplastic toenails Fatigue Low anterior hairline Short philtrum Cerebellar hypoplasia Aplasia/Hypoplasia of the distal phalanges of the hand Hypertrichosis Macroglossia Hirsutism Everted lower lip vermilion Cone-shaped epiphysis Thick vermilion border Low-set ears Highly arched eyebrow Triangular face Strabismus Blepharophimosis Cleft lip Narrow mouth Ventricular septal defect Hypertonia Talipes equinovarus Dilatation Cleft palate Hypertelorism Full cheeks Diabetes mellitus Hyperextensible skin Intracranial hemorrhage Metaphyseal widening Prolonged neonatal jaundice Tarsal synostosis Prominent occiput Cerebral hemorrhage Myopathic facies Coarse hair Opisthotonus Osteomyelitis Shock Abnormal palate morphology Spastic tetraparesis Cutis laxa Developmental regression Thickened skin Spasticity Umbilical hernia Dementia Inguinal hernia Cerebral atrophy Behavioral abnormality Diarrhea Cerebellar atrophy Dysarthria Muscle weakness Hypoglycemia Increased serum insulin-like growth factor 1 Burkitt lymphoma Hypoplastic facial bones Prominent scalp veins Rieger anomaly Broad finger Esodeviation Perimembranous ventricular septal defect Jaundice Abnormality of lipid metabolism Chronic diarrhea Generalized-onset seizure Abnormality of the face Bowing of the long bones Abnormality of the metaphysis Choreoathetosis Progressive neurologic deterioration Fine hair Tetraparesis Intellectual disability, profound Gastrointestinal hemorrhage Feeding difficulties in infancy Chorea Sepsis Recurrent fractures Hypopigmentation of the skin Neurodegeneration Dry skin Narrow chest Nausea and vomiting Severe global developmental delay Hypopigmentation of hair Hypothyroidism Exostoses Hydroureter Exocrine pancreatic insufficiency Hypoplastic nipples Hypopituitarism Anteriorly placed anus Glycosuria Agenesis of permanent teeth Steatorrhea Dextrocardia Calvarial skull defect Congenital sensorineural hearing impairment Clitoral hypertrophy Portal hypertension Abnormality of the genitourinary system Oligodontia Severe muscular hypotonia Hyperbilirubinemia Pointed chin Fair hair Hypoproteinemia Abnormality of the nail Increased VLDL cholesterol concentration Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Anasarca Septate vagina Absent lacrimal punctum Colonic diverticula Rectovaginal fistula Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Abnormality of the pancreas Hypocalcemia Situs inversus totalis Atypical scarring of skin Spontaneous hematomas Anemia Sensorineural hearing impairment Therapeutic abortion Metaphyseal spurs Abnormal carotid artery morphology Hypocupremia Multiple joint dislocation Arterial stenosis Hepatomegaly Venous insufficiency Trichorrhexis nodosa Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Pili torti Woolly hair Hypothermia Hypertension Cardiomyopathy Cholestasis Anal atresia Hypoplasia of penis Microdontia Growth hormone deficiency Intestinal malrotation Generalized muscle weakness Abdominal distention Downturned corners of mouth Hepatic failure Dilated cardiomyopathy Edema Abnormal cardiac septum morphology Abnormality of the liver Hydronephrosis Elevated hepatic transaminase Small face Micropenis Hypospadias Abnormality of the dentition Abnormality of the rib cage Epicanthus Maternal diabetes Absent eyelashes Labial hypoplasia Prominent superficial veins Eyelid coloboma Hypoplastic scapulae Hypoplastic labia majora Skin tags Median cleft lip Short sternum Aplasia cutis congenita Absent thumb Aplasia/Hypoplasia of the eyebrow Anonychia Bilateral cryptorchidism Cupped ear Ectropion Alopecia totalis Sparse or absent eyelashes Sacral dimple Bilateral cleft palate Specific learning disability Short metacarpal Poor speech Autistic behavior Autism Symblepharon Sparse lower eyelashes Ankyloblepharon Oral synechia Adactyly Unilateral renal hypoplasia Hypoplastic male external genitalia Synostosis of joints Aplasia/Hypoplasia of the distal phalanges of the toes Popliteal pterygium Renal hypoplasia/aplasia Opacification of the corneal stroma Status epilepticus Abnormality of dental enamel Absent earlobe Abnormality of earlobe Mild global developmental delay Prematurely aged appearance Cachexia Reduced number of teeth Narrow face Lacrimal duct aplasia Craniosynostosis Glaucoma Dystrophic toenail Slender finger Arachnodactyly Recurrent infections Ptosis Delayed eruption of permanent teeth Flexion contracture Short thumb Confusion Abnormality of the genital system Omphalocele Renal hypoplasia Ambiguous genitalia Oral cleft Cleft upper lip Talipes Short neck Toe syndactyly Arthrogryposis multiplex congenita Corneal opacity Finger syndactyly Pes planus Microphthalmia Syndactyly Eczema Broad-based gait Severe failure to thrive Arachnoid cyst Testicular torsion Diaphragmatic eventration Periventricular leukomalacia Tics Large forehead High anterior hairline Infantile spasms Malar flattening Short middle phalanx of finger Abnormality of the hand Deep philtrum Plagiocephaly Stereotypy Tapered finger Attention deficit hyperactivity disorder Wide nasal bridge Muscular hypotonia of the trunk Conductive hearing impairment Lipodystrophy Severe intrauterine growth retardation Reduced subcutaneous adipose tissue Delayed cranial suture closure High pitched voice Agitation Radial deviation of finger Patent foramen ovale Inability to walk Acanthosis nigricans Decreased body weight Blue sclerae Epidermal acanthosis Type II diabetes mellitus Webbed neck Lymphoma Low-set, posteriorly rotated ears Kyphoscoliosis Abnormality of epiphysis morphology Narrow nasal bridge Broad philtrum Abnormality of the testis Echolalia Abnormality of finger Epileptic spasms Protruding tongue Dysphasia Broad columella Aphasia Overfolded helix Short metatarsal Abnormality of the metacarpal bones Mutism Drooling Absence seizures Enlarged joints Wide nasal base Gastroesophageal reflux Frontal bossing High forehead Hyperactivity Prominent forehead Posteriorly rotated ears Constipation Midface retrusion Prominent proximal interphalangeal joints Eclabion Unilateral narrow palpebral fissure Prominent interphalangeal joints Prominent eyelashes Curly eyelashes Clubbing of toes Excessive wrinkled skin Broad distal phalanx of finger Midline skin dimples over anterior/posterior fontanelles


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