Frontal bossing, and Amenorrhea

Diseases related with Frontal bossing and Amenorrhea

In the following list you will find some of the most common rare diseases related to Frontal bossing and Amenorrhea that can help you solving undiagnosed cases.


Top matches:

High match WOODHOUSE-SAKATI SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia;diabetes-hypogonadism-deafness-intellectual disability syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis


SOURCES: GARD SCTID ORPHANET OMIM MONDO UMLS MESH

More info about WOODHOUSE-SAKATI SYNDROME

High match CROUZON SYNDROME

Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000).

CROUZON SYNDROME Is also known as craniofacial dysostosis, type i;cfd1, crouzon craniofacial dysostosis;crouzon craniofacial dysostosis

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Pica


SOURCES: UMLS OMIM ORPHANET

More info about CROUZON SYNDROME

High match ALEXANDER DISEASE; ALXDRD

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis


SOURCES: ORPHANET SCTID UMLS OMIM

More info about ALEXANDER DISEASE; ALXDRD

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High match TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES

GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES Is also known as odontotrichomelic syndrome;growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM

More info about TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES

High match PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1

Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH ) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL ), and thyroid-stimulating hormone (TSH; see {188540}), while the production of adrenocorticotrophic hormone (ACTH; see {176830}), luteinizing hormone (LH ), and follicle-stimulating hormone (FSH ) are preserved (Wu et al., 1998). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992). Genetic Heterogeneity of Combined Pituitary Hormone DeficiencyCPHD2 (OMIM ), associated with hypogonadism, is caused by mutation in the PROP1 gene (OMIM ). CPHD3 (OMIM ), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene (OMIM ). CPHD4 (OMIM ) is caused by mutation in the LHX4 gene (OMIM ). CPHD5 (see septooptic dysplasia, {182230}) is caused by mutation in the HESX1 gene (OMIM ). CPHD6 (OMIM ) is caused by mutation in the OTX2 gene (OMIM ).

PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1 Is also known as ;familial congenital hypopituitarism; multiple pituitary hormone deficiencies, genetic forms

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature


SOURCES: ORPHANET MONDO MESH UMLS GARD OMIM

More info about PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1

High match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome;warburton-anyane-yeboa syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO DOID ORPHANET OMIM SCTID UMLS

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

High match HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME

The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC described an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (OMIM ) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012).

HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME Is also known as histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness, hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss, h syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus;phid, histiocytosis with joint contractures and sensorineural deafness;hjcd, faisalabad histiocytosis, rosai-dorfman disease, familial, sinus histiocytosis and massive lymphadenopathy;shml;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: OMIM MONDO GARD UMLS MESH SCTID ORPHANET

More info about HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME

Medium match DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

This rare variant of congenital adrenal hyperplasia, caused by mutations in the POR gene, results in apparent combined deficiency of P450C17 (OMIM ) and P450C21 (OMIM ) and accumulation of steroid metabolites. The most striking phenotypic feature is that affected girls are born with ambiguous genitalia, indicating intrauterine androgen excess. After birth, however, virilization does not progress and amounts of circulating androgens are low or normal. Affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, sometimes suggesting the pattern seen in patients with Antley-Bixler syndrome (see {207410}) (summary by Arlt et al., 2004).

DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY Is also known as adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency, disordered steroidogenesis due to por deficiency;congenital adrenal hyperplasia due to cytochrome por deficiency; por deficiency; pord

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Flexion contracture


SOURCES: UMLS ORPHANET OMIM MONDO SCTID GARD

More info about DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

Medium match ACROMEGALY

Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Hypertension
  • Frontal bossing
  • Kyphosis
  • Abnormality of the dentition
  • Fatigue


SOURCES: ORPHANET ICD10

More info about ACROMEGALY

Medium match 2P21 MICRODELETION SYNDROME

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.

2P21 MICRODELETION SYNDROME Is also known as 2p21 deletion syndrome; del(2)(p21); monosomy 2p21

Related symptoms:

  • Seizures
  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET

More info about 2P21 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Amenorrhea

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Frontal bossing and Amenorrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypothyroidism Delayed puberty Midface retrusion Hypertelorism Hearing impairment Micropenis Delayed skeletal maturation Hydrocephalus Decreased testicular size High forehead Hypogonadism Diabetes mellitus Edema Muscular hypotonia Primary amenorrhea Anteverted nares Depressed nasal bridge Global developmental delay Sleep apnea Pica Autosomal dominant inheritance Decreased serum testosterone level Ptosis Agenesis of corpus callosum Low-set ears Generalized hypotonia Broad forehead Downslanted palpebral fissures Mandibular prognathia Hypertension Abnormality of the skeletal system Nystagmus Failure to thrive Alopecia Choanal atresia Brachycephaly Scoliosis Hyperreflexia

Rare Symptoms - Less than 30% cases


Hypersomnia Increased intracranial pressure Abnormality of the skull Long philtrum Abnormality of the dentition Micrognathia Acne Hypotension EEG abnormality Hyperhidrosis Choanal stenosis Osteopenia Constipation Generalized hyperpigmentation Depressivity Tall stature Kyphosis Short neck Short nose Glaucoma Epicanthus Holoprosencephaly Absence of secondary sex characteristics Aspiration pneumonia Bifid scrotum Osteolysis Hyperpigmentation of the skin Cryptorchidism Ambiguous genitalia Hoarse voice Wide nasal bridge Ventriculomegaly Atrial septal defect Coma Hypospadias Wide nose Posteriorly rotated ears Low-set, posteriorly rotated ears Aspiration Depressed nasal ridge Abnormality of the pinna Malar flattening Cleft upper lip Full cheeks Nephrolithiasis Palpebral edema Clinodactyly Flexion contracture Dysmenorrhea Acanthosis nigricans Fatigue Growth hormone deficiency Patent ductus arteriosus Pneumonia Polyhydramnios Hypoglycemia Abnormality of the eye Severe global developmental delay Macroglossia Ascites Hypopigmented skin patches Apnea Proptosis Intellectual disability, mild Cerebellar hypoplasia Respiratory insufficiency Hypogonadotrophic hypogonadism Conductive hearing impairment Craniosynostosis Optic atrophy Visual impairment Neoplasm Abnormal facial shape Strabismus Hypergonadotropic hypogonadism Hernia Triangular face Camptodactyly Gait disturbance Flat occiput Bilateral sensorineural hearing impairment Sensorineural hearing impairment Cognitive impairment Tics Polyneuropathy Peripheral neuropathy Decreased serum estradiol Dysarthria Embryonal rhabdomyosarcoma Triangular mouth Abnormal toenail morphology Impotence Broad foot Anemia Increased nuchal translucency Spinal canal stenosis Dysuria Premature chromatid separation Milia Hypodysplasia of the corpus callosum Vaginal neoplasm Abnormality of the endocrine system Joint swelling Cerebral hypoplasia Increased circulating androgen level Hepatomegaly Abnormal cardiac septum morphology Epistaxis Blue sclerae Mitral valve prolapse Wide intermamillary distance Cerebral palsy Recurrent fractures Flat face Malabsorption Lymphadenopathy Abnormality of the foot Ichthyosis Abnormality of the kidney Pectus carinatum Brachydactyly Retinopathy Dyspnea Hepatosplenomegaly Arthritis Pes planus Hyperkeratosis Widely spaced teeth Abnormal heart morphology Large hands Anterior hypopituitarism Fever Ventricular septal defect Splenomegaly Rhabdomyosarcoma Broad jaw Deep palmar crease Decreased fetal movement Sarcoma Abnormality of vision Aplasia/Hypoplasia of the corpus callosum Multicystic kidney dysplasia Intellectual disability, moderate Lactic acidosis Dandy-Walker malformation Intellectual disability, profound Coarctation of aorta Generalized tonic-clonic seizures Long eyelashes Aplasia/Hypoplasia of the cerebellum Hypocalcemia Nasal speech Sloping forehead Cystinuria Oligohydramnios Generalized myoclonic seizures Leukemia Abnormality of skin pigmentation Renal cyst Muscular dystrophy Aortic regurgitation Myelodysplasia Stomach cancer Intestinal polyposis Long penis Abnormal aortic morphology Galactorrhea Deep plantar creases Pituitary prolactin cell adenoma Macrodactyly Epidermal acanthosis Short sternum Subvalvular aortic stenosis Mild microcephaly Abnormality of the upper limb Cortical diaphyseal thickening of the upper limbs Duodenal atresia Acute leukemia Multiple renal cysts Acute lymphoblastic leukemia Multiple cafe-au-lait spots Abnormal lung lobation Colon cancer Abnormality of reproductive system physiology Combined immunodeficiency Abnormality of immune system physiology Nephroblastoma Hypertriglyceridemia Mitral regurgitation Thickened skin Polycystic ovaries Adrenal hypoplasia Abnormality of the labia majora Aortic root aneurysm Ovarian cyst Androgen insufficiency Primary adrenal insufficiency Disproportionate tall stature Decreased fertility Femoral bowing Coarse facial features Clitoral hypertrophy Reduced bone mineral density Adrenal hyperplasia Accelerated skeletal maturation Macrotia Renal hypoplasia Hirsutism Arachnodactyly Arthralgia Hypertrophic cardiomyopathy Narrow mouth Osteoporosis Retroperitoneal fibrosis Seborrheic keratosis Male pseudohermaphroditism Decreased circulating cortisol level Corneal opacity Hypoplasia of the vagina Pear-shaped nose Abnormality of prenatal development or birth Decreased circulating androgen level Premature adrenarche Congenital adrenal hypoplasia Female sexual dysfunction Adrenogenital syndrome Hyperpigmented genitalia Abnormal sex determination Female external genitalia in individual with 46,XY karyotype Decreased fertility in males Congenital adrenal hyperplasia Abnormal vagina morphology Adrenocorticotropic hormone excess Increased serum testosterone level Ambiguous genitalia, female Enlarged ovaries Maternal virilization in pregnancy Decreased fertility in females Abnormality of the menstrual cycle Enlarged polycystic ovaries Perineal hypospadias Urogenital sinus anomaly Increased circulating ACTH level Ambiguous genitalia, male Bilateral camptodactyly Scleritis Bronchiectasis Elbow flexion contracture Hallux valgus Elevated erythrocyte sedimentation rate Lipoatrophy Increased antibody level in blood Psoriasiform dermatitis Synophrys Hyperglycemia Lipodystrophy Azoospermia Plagiocephaly Telangiectasia Cardiomegaly Stridor Long face Tapered finger Paresthesia Gynecomastia Thick lower lip vermilion Migraine Gingival overgrowth Ectopic adrenal gland Generalized hirsutism Hypertrichosis Osteoarthritis Abnormality of the fingernails Microcytic anemia Enlarged kidney Cervical lymphadenopathy Pancreatic hypoplasia Abnormality of cardiovascular system physiology Stiff skin Panniculitis Episcleritis Broad finger Facial telangiectasia Corneal arcus Myelofibrosis Reticulocytopenia Anxiety Generalized lymphadenopathy Nasal obstruction Episodic fever Hyperplasia of the maxilla Chronic rhinitis Recurrent pharyngitis Histiocytosis Communicating hydrocephalus Varicose veins Skin nodule Severe sensorineural hearing impairment Scleroderma Exocrine pancreatic insufficiency Abnormal eyebrow morphology Polycythemia Upper eyelid edema Pulmonic stenosis Small for gestational age Abnormality of the nasopharynx Spasticity Muscle weakness Motor delay Ataxia Cartilaginous trachea Narrow internal auditory canal Multiple suture craniosynostosis Dysgerminoma Germinoma Abnormal sacrum morphology Abnormality of the cervical spine Craniofacial dysostosis Feeding difficulties Lambdoidal craniosynostosis Sagittal craniosynostosis Gonadoblastoma Coronal craniosynostosis Functional respiratory abnormality Papilledema Shallow orbits Turricephaly Syringomyelia Ovarian neoplasm Gonadal dysgenesis High palate Macrocephaly Arnold-Chiari malformation Developmental regression Tetraplegia Cerebral calcification Chorea Sleep disturbance Gliosis Abnormality of eye movement Dysmetria Nausea and vomiting Abnormality of the cerebral white matter Pruritus Neurological speech impairment Clonus Infantile onset Hyperlordosis Weight loss Abnormal pyramidal sign Facial palsy Respiratory failure Oxycephaly Dementia Encephalopathy Hyporeflexia Vomiting Dysphagia Tremor Anal stenosis Melanocytic nevus Sudden cardiac death Prominent nose Purpura Hallucinations Dehydration Myocardial infarction Choreoathetosis Fine hair Athetosis Sparse scalp hair Psychosis Abnormality of extrapyramidal motor function Dental malocclusion Sensory neuropathy Premature ovarian insufficiency Abnormality of movement Arthrogryposis multiplex congenita Prominent nasal bridge Sparse hair Mental deterioration Protruding ear Babinski sign Dystonia Diarrhea Abnormality of metabolism/homeostasis Delayed speech and language development Hyperlipidemia Aplasia/Hypoplasia of the eyebrow Atresia of the external auditory canal Pain Torticollis Conjunctivitis Narrow palate Amblyopia Dental crowding Convex nasal ridge Hypoplasia of the maxilla Acrania Iris coloboma Headache Respiratory distress Progressive alopecia Sparse eyebrow Abnormal T-wave Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Abnormal spermatogenesis Streak ovary Increased thyroid-stimulating hormone level Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Peripheral demyelination Diplopia Carcinoma Polydactyly Severe postnatal growth retardation Hypopituitarism Prolonged neonatal jaundice Absent septum pellucidum Hypoplastic left heart Adrenal insufficiency Delayed cranial suture closure Optic nerve hypoplasia Infertility Deeply set eye Jaundice Prominent forehead Short attention span Renal insufficiency Intellectual disability, severe Nevus Early balding Hypoplastic areola Tetraamelia Asymmetry of the thorax Thick nasal alae Nasolacrimal duct obstruction Skin tags Oligospermia Abnormality of digit Pituitary hypothyroidism Decreased skull ossification Ectopic anterior pituitary gland Postnatal growth retardation Feeding difficulties in infancy Abnormality of the genital system Upslanted palpebral fissure Immunodeficiency Clinodactyly of the 5th finger Microphthalmia Intrauterine growth retardation Cataract Cleft palate Microcephaly Decreased cervical spine mobility Concave nasal ridge Anterior pituitary agenesis Osteoporosis of vertebrae Abnormality of secondary sexual hair Moon facies Abnormal prolactin level Septo-optic dysplasia Aplasia/Hypoplasia of the breasts Decreased circulating ACTH level Ectopic posterior pituitary Pituitary dwarfism Median cleft lip and palate Anterior pituitary hypoplasia Abnormality of the cerebral vasculature Abnormality of the neck Leukoencephalopathy Glioma Optic nerve glioma Microcoria Progressive macrocephaly Pseudobulbar signs Large face Aqueductal stenosis Muscle fibrillation Hypothermia Astrocytoma Bulbar signs Drowsiness Abnormal autonomic nervous system physiology Recurrent singultus Increased CSF protein Megalencephaly Progressive spasticity Atrophy/Degeneration affecting the brainstem Bowel incontinence Self-injurious behavior Dysphasia Encephalitis Emotional lability Precocious puberty Dysphonia Hyperpigmented nevi Diffuse demyelination of the cerebral white matter Ectrodactyly Sparse eyelashes Abnormality of the clavicle Hypoplastic nipples Prematurely aged appearance Underdeveloped supraorbital ridges Keratoconus Abnormality of the outer ear Abnormality of the thorax Hyperextensible skin Atherosclerosis Abnormality of pelvic girdle bone morphology Abnormal palate morphology Hemangioma Myopia Aminoaciduria Sparse and thin eyebrow Small nail Hypotrichosis Abnormal form of the vertebral bodies Ectodermal dysplasia Abnormality of the metaphysis Delayed eruption of teeth Everted lower lip vermilion Joint hyperflexibility Umbilical hernia Arrhythmia Mitochondrial respiratory chain defects



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Frontal bossing and Round face, related diseases and genetic alterations