Microphthalmia, and Growth hormone deficiency

Diseases related with Microphthalmia and Growth hormone deficiency

In the following list you will find some of the most common rare diseases related to Microphthalmia and Growth hormone deficiency that can help you solving undiagnosed cases.


Top matches:

High match HOLOPROSENCEPHALY 9; HPE9


Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

High match FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI

High match SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME


Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

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Other less relevant matches:

High match SANJAD-SAKATI SYNDROME


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

High match ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME


Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome|anophthalmia, clinical, with associated anomalies|anophthalmia-esophageal-genital syndrome|microphthalmia and esophageal atresia syndrome|mcops3|syndromic microphthalmia type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

Medium match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Medium match PALLISTER-HALL SYNDROME; PHS


Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).

PALLISTER-HALL SYNDROME; PHS Is also known as hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PALLISTER-HALL SYNDROME; PHS

Medium match 15Q24 MICRODELETION SYNDROME


15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Medium match FRONTONASAL DYSPLASIA 1; FND1


The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Top 5 symptoms//phenotypes associated to Microphthalmia and Growth hormone deficiency

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge

Common Symptoms - More than 50% cases


Micropenis

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Holoprosencephaly Hypogonadism Abnormality of cardiovascular system morphology Short nose Cleft palate Agenesis of corpus callosum Abnormal facial shape Ventricular septal defect Micrognathia Frontal bossing Abnormality of the genital system Hypothyroidism Small for gestational age Low-set ears Strabismus Anteverted nares Posteriorly rotated ears Intellectual disability, mild Ventriculomegaly Cataract Generalized hypotonia Abnormal heart morphology Neoplasm Anophthalmia Wide nasal bridge Long philtrum Patent ductus arteriosus Dilatation Atrial septal defect Hypospadias Muscular hypotonia Corneal opacity Short thumb Small hand Short palm Duodenal atresia Postnatal growth retardation Low-set, posteriorly rotated ears Hypoplasia of penis Scoliosis Deeply set eye Coloboma High forehead Iris coloboma Hypoplasia of the corpus callosum Single transverse palmar crease Hypothalamic hamartoma Downslanted palpebral fissures Microretrognathia Clinodactyly Hemivertebrae Epicanthus Median cleft lip Postaxial hand polydactyly Wide nose Postaxial polydactyly Optic nerve hypoplasia Panhypopituitarism Patent foramen ovale Macrocephaly Cleft lip Hydrocephalus Polydactyly Brachydactyly Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases


Long face Ptosis Polyhydramnios Craniosynostosis Decreased testicular size Adrenal insufficiency Delayed skeletal maturation Dandy-Walker malformation Cafe-au-lait spot Scrotal hypoplasia Toe syndactyly Small nail Abnormal lung lobation Heterotopia Muscular hypotonia of the trunk Motor delay Hamartoma Increased number of teeth Underdeveloped nasal alae Rib fusion Feeding difficulties Talipes equinovarus Alopecia Glaucoma Upslanted palpebral fissure Hip dislocation Anal atresia Delayed eruption of teeth Sensorineural hearing impairment Short palpebral fissure Decreased circulating cortisol level Nystagmus Radial deviation of finger Delayed myelination Bifid uvula Hypertelorism Microphallus Thin vermilion border Fine hair Short foot Precocious puberty Preauricular skin tag Oral cleft Cleft upper lip Severe short stature Hypoplasia of the maxilla Sloping forehead Hypotelorism Absent thumb Coarctation of aorta Partial agenesis of the corpus callosum Renal agenesis Semilobar holoprosencephaly Renal hypoplasia Triangular face Astigmatism Conductive hearing impairment Anemia Single naris Anterior pituitary hypoplasia Microtia Single median maxillary incisor Short philtrum Macrotia Specific learning disability Tetralogy of Fallot Ambiguous genitalia Depressed nasal ridge Choanal atresia Midface retrusion Median cleft palate Vaginal neoplasm Absent tibia Diverticulosis of trachea Mesoaxial foot polydactyly Hypoplastic frontal sinuses Primitive neuroectodermal tumor Midline facial capillary hemangioma Distal shortening of limbs Preductal coarctation of the aorta Delayed speech and language development Bifid epiglottis Distal urethral duplication Y-shaped metacarpals Mesoaxial hand polydactyly Thyroid dysgenesis High palate Immunodeficiency Intellectual disability, severe Broad columella Feeding difficulties in infancy Joint laxity Aggressive behavior Autism Narrow mouth Hyperactivity Bifid nose Pes cavus Parietal foramina Premature chromatid separation Inguinal hernia Obesity Hernia Recurrent infections Mesoaxial polydactyly Hypertonia Midline facial cleft Behavioral abnormality Laryngeal cleft Renal cyst Natal tooth Abnormality of the kidney External genital hypoplasia Mesomelia Hydroureter Respiratory tract infection Ectopic kidney Cranium bifidum occultum Hydronephrosis Bilateral cryptorchidism Nail dysplasia Atresia of the external auditory canal Lipoma of corpus callosum Cutaneous syndactyly Renal dysplasia Frontal cutaneous lipoma Hypopituitarism Oligodactyly Radial head subluxation Widely-spaced maxillary central incisors Pectoral muscle hypoplasia/aplasia Hydrometrocolpos Limb undergrowth Hypoplasia of the epiglottis Syndactyly Mandibular aplasia Bilateral choanal atresia Vaginal atresia Morning glory anomaly Upper airway obstruction Short 4th metacarpal Microglossia Respiratory failure Postaxial foot polydactyly Dyspnea Scleral staphyloma Adrenal hypoplasia Attention deficit hyperactivity disorder Developmental regression Easy fatigability Broad nasal tip Oligohydramnios Encephalocele Abnormality of the face Long eyelashes Lymphedema Joint contracture of the hand Increased nuchal translucency Preaxial polydactyly Postural instability Overlapping fingers Thick upper lip vermilion High anterior hairline Insomnia Abnormality of digit Slender finger Mild short stature Diabetes insipidus Cupped ear Intestinal atresia Thick hair Abnormality of the thorax Anisocoria Brachycephaly Medial flaring of the eyebrow Gastrointestinal atresia Conspicuously happy disposition Long palm Large fleshy ears Dysplastic corpus callosum Telecanthus Flared nostrils Talipes Toe clinodactyly Deep plantar creases Intellectual disability, moderate Thick nasal alae Camptodactyly Unilateral cryptorchidism Abnormality of nervous system morphology Hypotrichosis Wide nasal base Proximal placement of thumb Abnormality of the voice Protruding ear Facial asymmetry Sleep disturbance Highly arched eyebrow Bifid nasal tip High, narrow palate Polymicrogyria Arachnodactyly Smooth philtrum Joint hyperflexibility Hypermetropia Conical tooth Severe global developmental delay Broad forehead Prominent nasal bridge Abnormality of the proximal phalanx of the thumb Alopecia totalis Camptodactyly of finger Broad philtrum Agenesis of cerebellar vermis Autistic behavior Tapered finger Congenital diaphragmatic hernia Nasal speech Bilateral single transverse palmar creases Abnormality of the outer ear Widely spaced teeth Sandal gap Multiple lipomas Occipital encephalocele Facial cleft Lipoma Meningocele Pointed chin Narrow face Interphalangeal joint contracture of finger Coronal craniosynostosis Short columella Hoarse voice Calvarial skull defect Widow's peak Sparse and thin eyebrow Open mouth Preaxial foot polydactyly Thick lower lip vermilion Epidermoid cyst Premature graying of hair Abnormal aortic morphology Failure to thrive Recurrent bacterial infections Hypocalcemia Convex nasal ridge Thin upper lip vermilion Prominent forehead Recurrent respiratory infections Abnormality of the dentition Myopathy Midnasal stenosis Intestinal obstruction Pyriform aperture stenosis Prominent median palatal raphe Torus palatinus Cyclopia Abnormality of the nasopharynx Nasal obstruction Hyposmia Abnormality of chromosome segregation Maternal diabetes Abnormality of dental enamel Spinal canal stenosis Tented upper lip vermilion Facial palsy Vertebral fusion Spastic diplegia Tracheoesophageal fistula Chorioretinal coloboma Hypogonadotrophic hypogonadism Abnormal vertebral morphology Spastic tetraplegia Congenital cataract Visual loss External ear malformation Patchy osteosclerosis Congenital hypoparathyroidism Hypocalcemic seizures Cellular immunodeficiency Aplasia/Hypoplasia affecting the eye Tetany Hyperphosphatemia Hypoparathyroidism Severe intrauterine growth retardation Narrow nasal bridge Anosmia Sclerocornea Abnormal cortical gyration Underdeveloped tragus Hypoplasia of the premaxilla Thoracic hemivertebrae Alobar holoprosencephaly Prominent antihelix Wide cranial sutures Median cleft lip and palate Large forehead Bilateral cleft lip and palate Anterior pituitary agenesis Skin tags Bilateral cleft lip Neurodevelopmental delay Heart murmur Dental malocclusion Pulmonary hypoplasia Pulmonic stenosis Malar flattening Respiratory distress Short hard palate Agenesis of incisor EMG: myopathic abnormalities Short 1st metacarpal Hemangioma Premature birth Ectodermal dysplasia Asthma Chromosomal breakage induced by crosslinking agents Small pituitary gland Colpocephaly Abnormal renal morphology Fused cervical vertebrae Absent septum pellucidum Asymmetric ventricles Arnold-Chiari malformation Horseshoe kidney Bone marrow hypocellularity Vesicoureteral reflux Neutropenia Pallor Thrombocytopenia Myopia Diastolic heart murmur Esophageal atresia Missing ribs Stomach cancer Forearm reduction defects Abnormality of skin pigmentation Dolichocephaly Muscular dystrophy Blepharophimosis Abnormality of the eye Apnea Clinodactyly of the 5th finger Cognitive impairment Zonular cataract Ascites Bilateral radial aplasia Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Aplasia/Hypoplasia of the patella Skin erosion Acantholysis Patellar aplasia Bulbous nose Rhizomelia Concave nasal ridge Atrioventricular canal defect Rhabdomyosarcoma Subvalvular aortic stenosis Intestinal polyposis Abnormality of the upper limb Abnormality of the skull Acute lymphoblastic leukemia Abnormality of immune system physiology Multiple cafe-au-lait spots Colon cancer Multicystic kidney dysplasia Aplasia/Hypoplasia of the cerebellum Nephroblastoma Myelodysplasia Abnormality of vision Sleep apnea Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Osteolysis Finger clinodactyly Rectovaginal fistula Poikiloderma 11 pairs of ribs Flexion contracture Skeletal dysplasia Kyphoscoliosis Mandibular prognathia Hyperkeratosis Osteoporosis Diarrhea Vomiting Hypertension Proximal esophageal atresia Sparse hair Cervical hemivertebrae Glandular hypospadias Multiple impacted teeth Absent gallbladder Vertebral hypoplasia Supernumerary ribs Butterfly vertebrae Periventricular leukomalacia Gonadotropin deficiency Erythema Skin rash Osteosarcoma Sarcoma Absent radius Proportionate short stature Aplasia/Hypoplasia of the thumb Anteriorly placed anus Skin vesicle Agenesis of permanent teeth Basal cell carcinoma Squamous cell carcinoma Pyloric stenosis Dermal atrophy Nail dystrophy Neoplasm of the skin Congenital hip dislocation Telangiectasia Cutaneous photosensitivity Microdontia Hypodontia Microcornea Hypopigmentation of the skin Flat face Anterior basal encephalocele



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