Undiagnosed 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 to solve undiagnosed cases. Browse more diseases related to these clinical features.

High match WOODHOUSE-SAKATI SYNDROME

Diabetes-hypogonadism-deafness-intellectual disability syndrome

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

Related symptoms:

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


SOURCES: MONDO MESH UMLS SCTID GARD ORPHANET OMIM

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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 disease is characterized by craniosynostosis and facial hypoplasia.

Related symptoms:

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


SOURCES: OMIM UMLS ORPHANET

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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: UMLS SCTID ORPHANET OMIM

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

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES Is also known as odontotrichomelic syndrome;gapo syndrome is a multiple congenital anomalies (mca) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations

Related symptoms:

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


SOURCES: OMIM ORPHANET

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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 ;congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

Related symptoms:

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


SOURCES: GARD MESH OMIM UMLS ORPHANET MONDO

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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;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.

Related symptoms:

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


SOURCES: UMLS MONDO OMIM DOID SCTID ORPHANET

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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;h syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. h syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. due to overlapping clinical features, h syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (phid), faisalabad histiocytosis (fhc) and familial sinus histiocytosis with massive lymphadenopathy (fshml).

Related symptoms:

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


SOURCES: ORPHANET MESH MONDO UMLS OMIM GARD SCTID

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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 p450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (cah; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.

Related symptoms:

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


SOURCES: GARD OMIM MONDO UMLS SCTID ORPHANET

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Medium match ACROMEGALY

ACROMEGALY Is also known as 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 MONDO GARD ICD10 MESH

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Medium match 2P21 MICRODELETION SYNDROME

2p21 deletion syndrome; Del(2)(p21); Monosomy 2p21

2P21 MICRODELETION SYNDROME Is also known as the 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.

Related symptoms:

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


SOURCES: MONDO SCTID ORPHANET

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

Symptoms // Phenotype % Cases
Autosomal recessive inheritance 60%
Short stature 60%
Seizures 60%
Intellectual disability 60%
Growth delay 60%
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Other less frequent symptoms

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

50% Delayed puberty 50% Hypothyroidism 50% Midface retrusion 50% Hypertelorism 50% Hearing impairment 40% Edema 40% Delayed skeletal maturation 40% Decreased testicular size 40% High forehead 40% Hypogonadism 40% Diabetes mellitus 40% Micropenis 40% Anteverted nares 40% Muscular hypotonia 40% Primary amenorrhea 40% Depressed nasal bridge 40% Hydrocephalus 40% Global developmental delay 40% Sleep apnea 40% Pica 30% Autosomal dominant inheritance 30% Ptosis 30% Decreased serum testosterone level 30% Agenesis of corpus callosum 30% Low-set ears 30% Generalized hypotonia 30% Broad forehead 30% Downslanted palpebral fissures 30% Mandibular prognathia 30% Hypertension 30% Abnormality of the skeletal system 30% Nystagmus 30% Failure to thrive 30% Alopecia 30% Choanal atresia 30% Brachycephaly 30% Scoliosis 30% Hyperreflexia 20% Hypersomnia 20% Increased intracranial pressure 20% Abnormality of the skull 20% Long philtrum 20% Abnormality of the dentition 20% Micrognathia 20% Acne 20% Hypotension 20% EEG abnormality 20% Hyperhidrosis 20% Choanal stenosis 20% Osteopenia 20% Constipation 20% Depressivity 20% Generalized hyperpigmentation 20% Tall stature 20% Kyphosis 20% Short neck 20% Short nose 20% Glaucoma 20% Epicanthus 20% Holoprosencephaly 20% Aspiration pneumonia 20% Absence of secondary sex characteristics 20% Bifid scrotum 20% Osteolysis 20% Hyperpigmentation of the skin 20% Cryptorchidism 20% Ambiguous genitalia 20% Hoarse voice 20% Wide nasal bridge 20% Ventriculomegaly 20% Atrial septal defect 20% Coma 20% Hypospadias 20% Wide nose 20% Posteriorly rotated ears 20% Low-set, posteriorly rotated ears 20% Aspiration 20% Depressed nasal ridge 20% Abnormality of the pinna 20% Malar flattening 20% Cleft upper lip 20% Full cheeks 20% Nephrolithiasis 20% Palpebral edema 20% Clinodactyly 20% Flexion contracture 20% Dysmenorrhea 20% Acanthosis nigricans 20% Fatigue 20% Growth hormone deficiency 20% Patent ductus arteriosus 20% Pneumonia 20% Polyhydramnios 20% Hypoglycemia 20% Abnormality of the eye 20% Severe global developmental delay 20% Macroglossia 20% Ascites 20% Hypopigmented skin patches 20% Apnea 20% Proptosis 20% Triangular face 20% Cerebellar hypoplasia 20% Respiratory insufficiency 20% Hypogonadotrophic hypogonadism 20% Conductive hearing impairment 20% Craniosynostosis 20% Optic atrophy 20% Visual impairment 20% Neoplasm 20% Abnormal facial shape 20% Strabismus 20% Hypergonadotropic hypogonadism 20% Hernia 20% Intellectual disability, mild 20% Camptodactyly 20% Gait disturbance 20% Flat occiput 20% Sensorineural hearing impairment 20% Bilateral sensorineural hearing impairment 20% Cognitive impairment 20% Tics 20% Polyneuropathy 20% Peripheral neuropathy 20% Decreased serum estradiol 20% Dysarthria 10% Premature chromatid separation 10% Triangular mouth 10% Hepatomegaly 10% Abnormal toenail morphology 10% Impotence 10% Broad foot 10% Anemia 10% Increased nuchal translucency 10% Joint swelling 10% Dysuria 10% Embryonal rhabdomyosarcoma 10% Milia 10% Hypodysplasia of the corpus callosum 10% Vaginal neoplasm 10% Abnormality of the endocrine system 10% Spinal canal stenosis 10% Cerebral hypoplasia 10% Increased circulating androgen level 10% Brachydactyly 10% Abnormal cardiac septum morphology 10% Epistaxis 10% Blue sclerae 10% Mitral valve prolapse 10% Wide intermamillary distance 10% Cerebral palsy 10% Recurrent fractures 10% Malabsorption 10% Flat face 10% Lymphadenopathy 10% Abnormality of the foot 10% Ichthyosis 10% Abnormality of the kidney 10% Pectus carinatum 10% Splenomegaly 10% Retinopathy 10% Dyspnea 10% Hepatosplenomegaly 10% Arthritis 10% Pes planus 10% Widely spaced teeth 10% Hyperkeratosis 10% Abnormal heart morphology 10% Large hands 10% Anterior hypopituitarism 10% Fever 10% Ventricular septal defect 10% Rhabdomyosarcoma 10% Broad jaw 10% Deep palmar crease 10% Generalized tonic-clonic seizures 10% Sarcoma 10% Aortic regurgitation 10% Abnormality of vision 10% Multicystic kidney dysplasia 10% Intellectual disability, moderate 10% Lactic acidosis 10% Dandy-Walker malformation 10% Intellectual disability, profound 10% Coarctation of aorta 10% Decreased fetal movement 10% Long eyelashes 10% Aplasia/Hypoplasia of the cerebellum 10% Hypocalcemia 10% Nasal speech 10% Sloping forehead 10% Cystinuria 10% Oligohydramnios 10% Generalized myoclonic seizures 10% Leukemia 10% Abnormality of skin pigmentation 10% Renal cyst 10% Muscular dystrophy 10% Aplasia/Hypoplasia of the corpus callosum 10% Myelodysplasia 10% Stomach cancer 10% Intestinal polyposis 10% Long penis 10% Abnormal aortic morphology 10% Deep plantar creases 10% Galactorrhea 10% Pituitary prolactin cell adenoma 10% Macrodactyly 10% Epidermal acanthosis 10% Mild microcephaly 10% Subvalvular aortic stenosis 10% Short sternum 10% Abnormality of the upper limb 10% Nephroblastoma 10% Duodenal atresia 10% Acute leukemia 10% Multiple renal cysts 10% Acute lymphoblastic leukemia 10% Multiple cafe-au-lait spots 10% Abnormal lung lobation 10% Colon cancer 10% Abnormality of reproductive system physiology 10% Combined immunodeficiency 10% Abnormality of immune system physiology 10% Cortical diaphyseal thickening of the upper limbs 10% Hypertriglyceridemia 10% Mitral regurgitation 10% Thickened skin 10% Polycystic ovaries 10% Male pseudohermaphroditism 10% Abnormality of the labia majora 10% Adrenal hypoplasia 10% Androgen insufficiency 10% Ovarian cyst 10% Primary adrenal insufficiency 10% Disproportionate tall stature 10% Decreased fertility 10% Femoral bowing 10% Coarse facial features 10% Clitoral hypertrophy 10% Reduced bone mineral density 10% Decreased circulating cortisol level 10% Accelerated skeletal maturation 10% Macrotia 10% Renal hypoplasia 10% Hirsutism 10% Arachnodactyly 10% Arthralgia 10% Hypertrophic cardiomyopathy 10% Narrow mouth 10% Osteoporosis 10% Retroperitoneal fibrosis 10% Seborrheic keratosis 10% Aortic root aneurysm 10% Adrenal hyperplasia 10% Corneal opacity 10% Female external genitalia in individual with 46,XY karyotype 10% Female sexual dysfunction 10% Abnormality of prenatal development or birth 10% Decreased circulating androgen level 10% Congenital adrenal hypoplasia 10% Premature adrenarche 10% Pear-shaped nose 10% Abnormal sex determination 10% Hyperpigmented genitalia 10% Adrenogenital syndrome 10% Decreased fertility in males 10% Hypoplasia of the vagina 10% Increased serum testosterone level 10% Abnormal vagina morphology 10% Congenital adrenal hyperplasia 10% Adrenocorticotropic hormone excess 10% Ambiguous genitalia, female 10% Enlarged ovaries 10% Maternal virilization in pregnancy 10% Decreased fertility in females 10% Enlarged polycystic ovaries 10% Abnormality of the menstrual cycle 10% Perineal hypospadias 10% Increased circulating ACTH level 10% Urogenital sinus anomaly 10% Ambiguous genitalia, male 10% Upper eyelid edema 10% Bilateral camptodactyly 10% Bronchiectasis 10% Telangiectasia 10% Hallux valgus 10% Elevated erythrocyte sedimentation rate 10% Increased antibody level in blood 10% Lipoatrophy 10% Psoriasiform dermatitis 10% Synophrys 10% Hyperglycemia 10% Lipodystrophy 10% Azoospermia 10% Plagiocephaly 10% Elbow flexion contracture 10% Cardiomegaly 10% Stridor 10% Long face 10% Tapered finger 10% Paresthesia 10% Gingival overgrowth 10% Migraine 10% Thick lower lip vermilion 10% Gynecomastia 10% Ectopic adrenal gland 10% Generalized hirsutism 10% Hypertrichosis 10% Osteoarthritis 10% Abnormality of the fingernails 10% Microcytic anemia 10% Enlarged kidney 10% Cervical lymphadenopathy 10% Reticulocytopenia 10% Abnormality of cardiovascular system physiology 10% Stiff skin 10% Panniculitis 10% Episcleritis 10% Corneal arcus 10% Broad finger 10% Facial telangiectasia 10% Myelofibrosis 10% Pancreatic hypoplasia 10% Anxiety 10% Generalized lymphadenopathy 10% Nasal obstruction 10% Episodic fever 10% Hyperplasia of the maxilla 10% Chronic rhinitis 10% Histiocytosis 10% Recurrent pharyngitis 10% Communicating hydrocephalus 10% Skin nodule 10% Varicose veins 10% Severe sensorineural hearing impairment 10% Scleroderma 10% Abnormal eyebrow morphology 10% Exocrine pancreatic insufficiency 10% Polycythemia 10% Scleritis 10% Pulmonic stenosis 10% Small for gestational age 10% Craniofacial dysostosis 10% Spasticity 10% Muscle weakness 10% Motor delay 10% Ataxia 10% Cartilaginous trachea 10% Narrow internal auditory canal 10% Multiple suture craniosynostosis 10% Dysgerminoma 10% Germinoma 10% Abnormal sacrum morphology 10% Abnormality of the cervical spine 10% Abnormality of the nasopharynx 10% Feeding difficulties 10% Lambdoidal craniosynostosis 10% Sagittal craniosynostosis 10% Gonadoblastoma 10% Functional respiratory abnormality 10% Coronal craniosynostosis 10% Shallow orbits 10% Papilledema 10% Turricephaly 10% Syringomyelia 10% Gonadal dysgenesis 10% Ovarian neoplasm 10% High palate 10% Macrocephaly 10% Arnold-Chiari malformation 10% Developmental regression 10% Cerebral calcification 10% Tetraplegia 10% Chorea 10% Sleep disturbance 10% Gliosis 10% Abnormality of eye movement 10% Dysmetria 10% Nausea and vomiting 10% Abnormality of the cerebral white matter 10% Pruritus 10% Neurological speech impairment 10% Clonus 10% Infantile onset 10% Hyperlordosis 10% Weight loss 10% Abnormal pyramidal sign 10% Facial palsy 10% Respiratory failure 10% Oxycephaly 10% Dementia 10% Hyporeflexia 10% Encephalopathy 10% Vomiting 10% Dysphagia 10% Tremor 10% Anal stenosis 10% Melanocytic nevus 10% Sudden cardiac death 10% Dental malocclusion 10% Purpura 10% Hallucinations 10% Dehydration 10% Myocardial infarction 10% Choreoathetosis 10% Fine hair 10% Athetosis 10% Sparse scalp hair 10% Abnormality of extrapyramidal motor function 10% Psychosis 10% Prominent nose 10% Sensory neuropathy 10% Premature ovarian insufficiency 10% Abnormality of movement 10% Arthrogryposis multiplex congenita 10% Prominent nasal bridge 10% Sparse hair 10% Mental deterioration 10% Protruding ear 10% Babinski sign 10% Dystonia 10% Diarrhea 10% Abnormality of metabolism/homeostasis 10% Delayed speech and language development 10% Hyperlipidemia 10% Aplasia/Hypoplasia of the eyebrow 10% Atresia of the external auditory canal 10% Pain 10% Torticollis 10% Conjunctivitis 10% Narrow palate 10% Amblyopia 10% Dental crowding 10% Convex nasal ridge 10% Hypoplasia of the maxilla 10% Acrania 10% Iris coloboma 10% Headache 10% Respiratory distress 10% Progressive alopecia 10% Sparse eyebrow 10% Abnormal T-wave 10% Hypoplasia of the fallopian tube 10% Progressive extrapyramidal movement disorder 10% Decreased serum insulin-like growth factor 1 10% Abnormal spermatogenesis 10% Streak ovary 10% Increased thyroid-stimulating hormone level 10% Anodontia 10% Heart block 10% Insulin-resistant diabetes mellitus 10% Autoimmune thrombocytopenia 10% Hypoplasia of the uterus 10% Peripheral demyelination 10% Diplopia 10% Carcinoma 10% Polydactyly 10% Severe postnatal growth retardation 10% Hypopituitarism 10% Prolonged neonatal jaundice 10% Absent septum pellucidum 10% Hypoplastic left heart 10% Adrenal insufficiency 10% Delayed cranial suture closure 10% Optic nerve hypoplasia 10% Infertility 10% Deeply set eye 10% Jaundice 10% Prominent forehead 10% Short attention span 10% Renal insufficiency 10% Intellectual disability, severe 10% Nevus 10% Early balding 10% Tetraamelia 10% Hypoplastic areola 10% Asymmetry of the thorax 10% Thick nasal alae 10% Nasolacrimal duct obstruction 10% Skin tags 10% Oligospermia 10% Abnormality of digit 10% Pituitary hypothyroidism 10% Abnormality of the neck 10% Ectopic anterior pituitary gland 10% Postnatal growth retardation 10% Feeding difficulties in infancy 10% Abnormality of the genital system 10% Upslanted palpebral fissure 10% Immunodeficiency 10% Clinodactyly of the 5th finger 10% Microphthalmia 10% Intrauterine growth retardation 10% Cataract 10% Cleft palate 10% Microcephaly 10% Decreased cervical spine mobility 10% Concave nasal ridge 10% Anterior pituitary agenesis 10% Moon facies 10% Osteoporosis of vertebrae 10% Abnormality of secondary sexual hair 10% Abnormal prolactin level 10% Septo-optic dysplasia 10% Aplasia/Hypoplasia of the breasts 10% Decreased circulating ACTH level 10% Pituitary dwarfism 10% Ectopic posterior pituitary 10% Anterior pituitary hypoplasia 10% Median cleft lip and palate 10% Abnormality of the cerebral vasculature 10% Decreased skull ossification 10% Leukoencephalopathy 10% Glioma 10% Hyperpigmented nevi 10% Microcoria 10% Progressive macrocephaly 10% Pseudobulbar signs 10% Large face 10% Muscle fibrillation 10% Aqueductal stenosis 10% Hypothermia 10% Astrocytoma 10% Bulbar signs 10% Drowsiness 10% Abnormal autonomic nervous system physiology 10% Recurrent singultus 10% Increased CSF protein 10% Megalencephaly 10% Atrophy/Degeneration affecting the brainstem 10% Progressive spasticity 10% Bowel incontinence 10% Self-injurious behavior 10% Dysphasia 10% Encephalitis 10% Emotional lability 10% Precocious puberty 10% Dysphonia 10% Optic nerve glioma 10% Diffuse demyelination of the cerebral white matter 10% Ectrodactyly 10% Sparse eyelashes 10% Abnormality of the clavicle 10% Hypoplastic nipples 10% Keratoconus 10% Prematurely aged appearance 10% Underdeveloped supraorbital ridges 10% Abnormality of the outer ear 10% Abnormality of the thorax 10% Hyperextensible skin 10% Abnormality of pelvic girdle bone morphology 10% Atherosclerosis 10% Abnormal palate morphology 10% Hemangioma 10% Myopia 10% Aminoaciduria 10% Sparse and thin eyebrow 10% Small nail 10% Hypotrichosis 10% Abnormal form of the vertebral bodies 10% Abnormality of the metaphysis 10% Ectodermal dysplasia 10% Delayed eruption of teeth 10% Everted lower lip vermilion 10% Joint hyperflexibility 10% Umbilical hernia 10% Arrhythmia 10% Mitochondrial respiratory chain defects



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Other signs and symptoms that you may find interesting

Frontal bossing and Round face, related diseases and genetic alterations